SNP Links for Protein (Select 384081592) - SNP

Select item 14869777061.

rs1486977706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:87728273 (GRCh38)
9:90343188 (GRCh37)
Canonical SPDI:: NC_000009.12:87728272:G:A
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.87728273G>A, NC_000009.11:g.90343188G>A, NM_001912.5:c.273G>A, NM_001912.4:c.273G>A, NM_145918.3:c.273G>A, NM_145918.2:c.273G>A, NM_001257971.2:c.273G>A, NM_001257971.1:c.273G>A, NM_001257972.2:c.273G>A, NM_001257972.1:c.273G>A, NM_001382757.1:c.273G>A, NM_001382767.1:c.273G>A, NM_001382768.1:c.273G>A, NM_001382766.1:c.273G>A, NM_001382758.1:c.108G>A

Select item 14860890162.

rs1486089016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:87728385 (GRCh38)
9:90343300 (GRCh37)
Canonical SPDI:: NC_000009.12:87728384:G:A
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000009.12:g.87728385G>A, NC_000009.11:g.90343300G>A, NM_001912.5:c.385G>A, NM_001912.4:c.385G>A, NM_145918.3:c.385G>A, NM_145918.2:c.385G>A, NM_001257971.2:c.385G>A, NM_001257971.1:c.385G>A, NM_001257972.2:c.385G>A, NM_001257972.1:c.385G>A, NM_001382757.1:c.385G>A, NM_001382767.1:c.385G>A, NM_001382768.1:c.385G>A, NM_001382766.1:c.385G>A, NM_001382758.1:c.220G>A, NP_001903.1:p.Val129Met, NP_666023.1:p.Val129Met, NP_001244900.1:p.Val129Met, NP_001244901.1:p.Val129Met, NP_001369686.1:p.Val129Met, NP_001369696.1:p.Val129Met, NP_001369697.1:p.Val129Met, NP_001369695.1:p.Val129Met, NP_001369687.1:p.Val74Met

Select item 14767016813.

rs1476701681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:87727658 (GRCh38)
9:90342574 (GRCh37)
Canonical SPDI:: NC_000009.12:87727658:T:TT
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.87727659dup, NC_000009.11:g.90342574dup, NG_068498.1:g.3435dup, NM_001912.5:c.56dup, NM_001912.4:c.56dup, NM_145918.3:c.56dup, NM_145918.2:c.56dup, NM_001257971.2:c.56dup, NM_001257971.1:c.56dup, NM_001257972.2:c.56dup, NM_001257972.1:c.56dup, NM_001257973.2:c.-61dup, NM_001257973.1:c.-61dup, NM_001382757.1:c.56dup, NM_001382767.1:c.56dup, NM_001382768.1:c.56dup, NM_001382766.1:c.56dup, NP_001903.1:p.Thr20fs, NP_666023.1:p.Thr20fs, NP_001244900.1:p.Thr20fs, NP_001244901.1:p.Thr20fs, NP_001369686.1:p.Thr20fs, NP_001369696.1:p.Thr20fs, NP_001369697.1:p.Thr20fs, NP_001369695.1:p.Thr20fs

Select item 14701646614.

rs1470164661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:87728596 (GRCh38)
9:90343511 (GRCh37)
Canonical SPDI:: NC_000009.12:87728595:T:A,NC_000009.12:87728595:T:C
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87728596T>A, NC_000009.12:g.87728596T>C, NC_000009.11:g.90343511T>A, NC_000009.11:g.90343511T>C, NM_001912.5:c.408T>A, NM_001912.5:c.408T>C, NM_001912.4:c.408T>A, NM_001912.4:c.408T>C, NM_145918.3:c.408T>A, NM_145918.3:c.408T>C, NM_145918.2:c.408T>A, NM_145918.2:c.408T>C, NM_001257971.2:c.408T>A, NM_001257971.2:c.408T>C, NM_001257971.1:c.408T>A, NM_001257971.1:c.408T>C, NM_001257972.2:c.408T>A, NM_001257972.2:c.408T>C, NM_001257972.1:c.408T>A, NM_001257972.1:c.408T>C, NM_001382757.1:c.408T>A, NM_001382757.1:c.408T>C, NM_001382767.1:c.408T>A, NM_001382767.1:c.408T>C, NM_001382768.1:c.408T>A, NM_001382768.1:c.408T>C, NM_001382766.1:c.408T>A, NM_001382766.1:c.408T>C, NM_001382758.1:c.243T>A, NM_001382758.1:c.243T>C

Select item 14682227965.

rs1468222796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87728085 (GRCh38)
9:90343000 (GRCh37)
Canonical SPDI:: NC_000009.12:87728084:A:G
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.87728085A>G, NC_000009.11:g.90343000A>G, NM_001912.5:c.185A>G, NM_001912.4:c.185A>G, NM_145918.3:c.185A>G, NM_145918.2:c.185A>G, NM_001257971.2:c.185A>G, NM_001257971.1:c.185A>G, NM_001257972.2:c.185A>G, NM_001257972.1:c.185A>G, NM_001382757.1:c.185A>G, NM_001382767.1:c.185A>G, NM_001382768.1:c.185A>G, NM_001382766.1:c.185A>G, NM_001382758.1:c.20A>G, NP_001903.1:p.His62Arg, NP_666023.1:p.His62Arg, NP_001244900.1:p.His62Arg, NP_001244901.1:p.His62Arg, NP_001369686.1:p.His62Arg, NP_001369696.1:p.His62Arg, NP_001369697.1:p.His62Arg, NP_001369695.1:p.His62Arg, NP_001369687.1:p.His7Arg

Select item 14673261896.

rs1467326189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:87729649 (GRCh38)
9:90344564 (GRCh37)
Canonical SPDI:: NC_000009.12:87729648:A:T
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87729649A>T, NC_000009.11:g.90344564A>T, NM_001912.5:c.698A>T, NM_001912.4:c.698A>T, NM_145918.3:c.698A>T, NM_145918.2:c.698A>T, NM_001257971.2:c.698A>T, NM_001257971.1:c.698A>T, NM_001257972.2:c.698A>T, NM_001257972.1:c.698A>T, NM_001257973.2:c.152A>T, NM_001257973.1:c.152A>T, NM_001382757.1:c.698A>T, NM_001382767.1:c.698A>T, NM_001382768.1:c.698A>T, NM_001382766.1:c.698A>T, NM_001382758.1:c.533A>T, NP_001903.1:p.Lys233Met, NP_666023.1:p.Lys233Met, NP_001244900.1:p.Lys233Met, NP_001244901.1:p.Lys233Met, NP_001244902.1:p.Lys51Met, NP_001369686.1:p.Lys233Met, NP_001369696.1:p.Lys233Met, NP_001369697.1:p.Lys233Met, NP_001369695.1:p.Lys233Met, NP_001369687.1:p.Lys178Met

Select item 14635685047.

rs1463568504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:87729590 (GRCh38)
9:90344505 (GRCh37)
Canonical SPDI:: NC_000009.12:87729589:C:A,NC_000009.12:87729589:C:T
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.87729590C>A, NC_000009.12:g.87729590C>T, NC_000009.11:g.90344505C>A, NC_000009.11:g.90344505C>T, NM_001912.5:c.639C>A, NM_001912.5:c.639C>T, NM_001912.4:c.639C>A, NM_001912.4:c.639C>T, NM_145918.3:c.639C>A, NM_145918.3:c.639C>T, NM_145918.2:c.639C>A, NM_145918.2:c.639C>T, NM_001257971.2:c.639C>A, NM_001257971.2:c.639C>T, NM_001257971.1:c.639C>A, NM_001257971.1:c.639C>T, NM_001257972.2:c.639C>A, NM_001257972.2:c.639C>T, NM_001257972.1:c.639C>A, NM_001257972.1:c.639C>T, NM_001257973.2:c.93C>A, NM_001257973.2:c.93C>T, NM_001257973.1:c.93C>A, NM_001257973.1:c.93C>T, NM_001382757.1:c.639C>A, NM_001382757.1:c.639C>T, NM_001382767.1:c.639C>A, NM_001382767.1:c.639C>T, NM_001382768.1:c.639C>A, NM_001382768.1:c.639C>T, NM_001382766.1:c.639C>A, NM_001382766.1:c.639C>T, NM_001382758.1:c.474C>A, NM_001382758.1:c.474C>T, NP_001903.1:p.Tyr213Ter, NP_666023.1:p.Tyr213Ter, NP_001244900.1:p.Tyr213Ter, NP_001244901.1:p.Tyr213Ter, NP_001244902.1:p.Tyr31Ter, NP_001369686.1:p.Tyr213Ter, NP_001369696.1:p.Tyr213Ter, NP_001369697.1:p.Tyr213Ter, NP_001369695.1:p.Tyr213Ter, NP_001369687.1:p.Tyr158Ter

Select item 14623915898.

rs1462391589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:87729668 (GRCh38)
9:90344583 (GRCh37)
Canonical SPDI:: NC_000009.12:87729667:T:A,NC_000009.12:87729667:T:G
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.87729668T>A, NC_000009.12:g.87729668T>G, NC_000009.11:g.90344583T>A, NC_000009.11:g.90344583T>G, NM_001912.5:c.717T>A, NM_001912.5:c.717T>G, NM_001912.4:c.717T>A, NM_001912.4:c.717T>G, NM_145918.3:c.717T>A, NM_145918.3:c.717T>G, NM_145918.2:c.717T>A, NM_145918.2:c.717T>G, NM_001257971.2:c.717T>A, NM_001257971.2:c.717T>G, NM_001257971.1:c.717T>A, NM_001257971.1:c.717T>G, NM_001257972.2:c.717T>A, NM_001257972.2:c.717T>G, NM_001257972.1:c.717T>A, NM_001257972.1:c.717T>G, NM_001257973.2:c.171T>A, NM_001257973.2:c.171T>G, NM_001257973.1:c.171T>A, NM_001257973.1:c.171T>G, NM_001382757.1:c.717T>A, NM_001382757.1:c.717T>G, NM_001382767.1:c.717T>A, NM_001382767.1:c.717T>G, NM_001382768.1:c.717T>A, NM_001382768.1:c.717T>G, NM_001382766.1:c.717T>A, NM_001382766.1:c.717T>G, NM_001382758.1:c.552T>A, NM_001382758.1:c.552T>G

Select item 14613424199.

rs1461342419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:87728316 (GRCh38)
9:90343231 (GRCh37)
Canonical SPDI:: NC_000009.12:87728315:T:C
Gene:: CTSL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87728316T>C, NC_000009.11:g.90343231T>C, NM_001912.5:c.316T>C, NM_001912.4:c.316T>C, NM_145918.3:c.316T>C, NM_145918.2:c.316T>C, NM_001257971.2:c.316T>C, NM_001257971.1:c.316T>C, NM_001257972.2:c.316T>C, NM_001257972.1:c.316T>C, NM_001382757.1:c.316T>C, NM_001382767.1:c.316T>C, NM_001382768.1:c.316T>C, NM_001382766.1:c.316T>C, NM_001382758.1:c.151T>C, NP_001903.1:p.Phe106Leu, NP_666023.1:p.Phe106Leu, NP_001244900.1:p.Phe106Leu, NP_001244901.1:p.Phe106Leu, NP_001369686.1:p.Phe106Leu, NP_001369696.1:p.Phe106Leu, NP_001369697.1:p.Phe106Leu, NP_001369695.1:p.Phe106Leu, NP_001369687.1:p.Phe51Leu

Select item 145989633010.

rs1459896330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:87728776 (GRCh38)
9:90343691 (GRCh37)
Canonical SPDI:: NC_000009.12:87728775:G:A,NC_000009.12:87728775:G:T
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.87728776G>A, NC_000009.12:g.87728776G>T, NC_000009.11:g.90343691G>A, NC_000009.11:g.90343691G>T, NM_001912.5:c.588G>A, NM_001912.5:c.588G>T, NM_001912.4:c.588G>A, NM_001912.4:c.588G>T, NM_145918.3:c.588G>A, NM_145918.3:c.588G>T, NM_145918.2:c.588G>A, NM_145918.2:c.588G>T, NM_001257971.2:c.588G>A, NM_001257971.2:c.588G>T, NM_001257971.1:c.588G>A, NM_001257971.1:c.588G>T, NM_001257972.2:c.588G>A, NM_001257972.2:c.588G>T, NM_001257972.1:c.588G>A, NM_001257972.1:c.588G>T, NM_001257973.2:c.42G>A, NM_001257973.2:c.42G>T, NM_001257973.1:c.42G>A, NM_001257973.1:c.42G>T, NM_001382757.1:c.588G>A, NM_001382757.1:c.588G>T, NM_001382767.1:c.588G>A, NM_001382767.1:c.588G>T, NM_001382768.1:c.588G>A, NM_001382768.1:c.588G>T, NM_001382766.1:c.588G>A, NM_001382766.1:c.588G>T, NM_001382758.1:c.423G>A, NM_001382758.1:c.423G>T

Select item 145805392311.

rs1458053923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:87728749 (GRCh38)
9:90343664 (GRCh37)
Canonical SPDI:: NC_000009.12:87728748:C:T
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.87728749C>T, NC_000009.11:g.90343664C>T, NM_001912.5:c.561C>T, NM_001912.4:c.561C>T, NM_145918.3:c.561C>T, NM_145918.2:c.561C>T, NM_001257971.2:c.561C>T, NM_001257971.1:c.561C>T, NM_001257972.2:c.561C>T, NM_001257972.1:c.561C>T, NM_001257973.2:c.15C>T, NM_001257973.1:c.15C>T, NM_001382757.1:c.561C>T, NM_001382767.1:c.561C>T, NM_001382768.1:c.561C>T, NM_001382766.1:c.561C>T, NM_001382758.1:c.396C>T

Select item 145769470512.

rs1457694705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87729684 (GRCh38)
9:90344599 (GRCh37)
Canonical SPDI:: NC_000009.12:87729683:A:G
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87729684A>G, NC_000009.11:g.90344599A>G, NM_001912.5:c.733A>G, NM_001912.4:c.733A>G, NM_145918.3:c.733A>G, NM_145918.2:c.733A>G, NM_001257971.2:c.733A>G, NM_001257971.1:c.733A>G, NM_001257972.2:c.733A>G, NM_001257972.1:c.733A>G, NM_001257973.2:c.187A>G, NM_001257973.1:c.187A>G, NM_001382757.1:c.733A>G, NM_001382767.1:c.733A>G, NM_001382768.1:c.733A>G, NM_001382766.1:c.733A>G, NM_001382758.1:c.568A>G, NP_001903.1:p.Ile245Val, NP_666023.1:p.Ile245Val, NP_001244900.1:p.Ile245Val, NP_001244901.1:p.Ile245Val, NP_001244902.1:p.Ile63Val, NP_001369686.1:p.Ile245Val, NP_001369696.1:p.Ile245Val, NP_001369697.1:p.Ile245Val, NP_001369695.1:p.Ile245Val, NP_001369687.1:p.Ile190Val

Select item 145706401213.

rs1457064012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:87728705 (GRCh38)
9:90343620 (GRCh37)
Canonical SPDI:: NC_000009.12:87728704:C:T
Gene:: CTSL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.87728705C>T, NC_000009.11:g.90343620C>T, NM_001912.5:c.517C>T, NM_001912.4:c.517C>T, NM_145918.3:c.517C>T, NM_145918.2:c.517C>T, NM_001257971.2:c.517C>T, NM_001257971.1:c.517C>T, NM_001257972.2:c.517C>T, NM_001257972.1:c.517C>T, NM_001382757.1:c.517C>T, NM_001382767.1:c.517C>T, NM_001382768.1:c.517C>T, NM_001382766.1:c.517C>T, NM_001382758.1:c.352C>T, NP_001903.1:p.Gln173Ter, NP_666023.1:p.Gln173Ter, NP_001244900.1:p.Gln173Ter, NP_001244901.1:p.Gln173Ter, NP_001369686.1:p.Gln173Ter, NP_001369696.1:p.Gln173Ter, NP_001369697.1:p.Gln173Ter, NP_001369695.1:p.Gln173Ter, NP_001369687.1:p.Gln118Ter

Select item 145067910614.

rs1450679106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:87728283 (GRCh38)
9:90343198 (GRCh37)
Canonical SPDI:: NC_000009.12:87728282:T:C
Gene:: CTSL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.87728283T>C, NC_000009.11:g.90343198T>C, NM_001912.5:c.283T>C, NM_001912.4:c.283T>C, NM_145918.3:c.283T>C, NM_145918.2:c.283T>C, NM_001257971.2:c.283T>C, NM_001257971.1:c.283T>C, NM_001257972.2:c.283T>C, NM_001257972.1:c.283T>C, NM_001382757.1:c.283T>C, NM_001382767.1:c.283T>C, NM_001382768.1:c.283T>C, NM_001382766.1:c.283T>C, NM_001382758.1:c.118T>C, NP_001903.1:p.Phe95Leu, NP_666023.1:p.Phe95Leu, NP_001244900.1:p.Phe95Leu, NP_001244901.1:p.Phe95Leu, NP_001369686.1:p.Phe95Leu, NP_001369696.1:p.Phe95Leu, NP_001369697.1:p.Phe95Leu, NP_001369695.1:p.Phe95Leu, NP_001369687.1:p.Phe40Leu

Select item 144389816415.

rs1443898164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:87728373 (GRCh38)
9:90343288 (GRCh37)
Canonical SPDI:: NC_000009.12:87728372:T:C
Gene:: CTSL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.87728373T>C, NC_000009.11:g.90343288T>C, NM_001912.5:c.373T>C, NM_001912.4:c.373T>C, NM_145918.3:c.373T>C, NM_145918.2:c.373T>C, NM_001257971.2:c.373T>C, NM_001257971.1:c.373T>C, NM_001257972.2:c.373T>C, NM_001257972.1:c.373T>C, NM_001382757.1:c.373T>C, NM_001382767.1:c.373T>C, NM_001382768.1:c.373T>C, NM_001382766.1:c.373T>C, NM_001382758.1:c.208T>C, NP_001903.1:p.Tyr125His, NP_666023.1:p.Tyr125His, NP_001244900.1:p.Tyr125His, NP_001244901.1:p.Tyr125His, NP_001369686.1:p.Tyr125His, NP_001369696.1:p.Tyr125His, NP_001369697.1:p.Tyr125His, NP_001369695.1:p.Tyr125His, NP_001369687.1:p.Tyr70His

Select item 144212239416.

rs1442122394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87729601 (GRCh38)
9:90344516 (GRCh37)
Canonical SPDI:: NC_000009.12:87729600:A:G
Gene:: CTSL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87729601A>G, NC_000009.11:g.90344516A>G, NM_001912.5:c.650A>G, NM_001912.4:c.650A>G, NM_145918.3:c.650A>G, NM_145918.2:c.650A>G, NM_001257971.2:c.650A>G, NM_001257971.1:c.650A>G, NM_001257972.2:c.650A>G, NM_001257972.1:c.650A>G, NM_001257973.2:c.104A>G, NM_001257973.1:c.104A>G, NM_001382757.1:c.650A>G, NM_001382767.1:c.650A>G, NM_001382768.1:c.650A>G, NM_001382766.1:c.650A>G, NM_001382758.1:c.485A>G, NP_001903.1:p.Tyr217Cys, NP_666023.1:p.Tyr217Cys, NP_001244900.1:p.Tyr217Cys, NP_001244901.1:p.Tyr217Cys, NP_001244902.1:p.Tyr35Cys, NP_001369686.1:p.Tyr217Cys, NP_001369696.1:p.Tyr217Cys, NP_001369697.1:p.Tyr217Cys, NP_001369695.1:p.Tyr217Cys, NP_001369687.1:p.Tyr162Cys

Select item 143869911517.

rs1438699115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87728348 (GRCh38)
9:90343263 (GRCh37)
Canonical SPDI:: NC_000009.12:87728347:A:G
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000009.12:g.87728348A>G, NC_000009.11:g.90343263A>G, NM_001912.5:c.348A>G, NM_001912.4:c.348A>G, NM_145918.3:c.348A>G, NM_145918.2:c.348A>G, NM_001257971.2:c.348A>G, NM_001257971.1:c.348A>G, NM_001257972.2:c.348A>G, NM_001257972.1:c.348A>G, NM_001382757.1:c.348A>G, NM_001382767.1:c.348A>G, NM_001382768.1:c.348A>G, NM_001382766.1:c.348A>G, NM_001382758.1:c.183A>G

Select item 143724943018.

rs1437249430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:87730415 (GRCh38)
9:90345330 (GRCh37)
Canonical SPDI:: NC_000009.12:87730414:C:T
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.87730415C>T, NC_000009.11:g.90345330C>T, NM_001912.5:c.819C>T, NM_001912.4:c.819C>T, NM_145918.3:c.819C>T, NM_145918.2:c.819C>T, NM_001257971.2:c.819C>T, NM_001257971.1:c.819C>T, NM_001257972.2:c.819C>T, NM_001257972.1:c.819C>T, NM_001257973.2:c.273C>T, NM_001257973.1:c.273C>T, NM_001382757.1:c.819C>T, NM_001382758.1:c.654C>T

Select item 143706481119.

rs1437064811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:87727708 (GRCh38)
9:90342623 (GRCh37)
Canonical SPDI:: NC_000009.12:87727707:G:A
Gene:: CTSL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.87727708G>A, NC_000009.11:g.90342623G>A, NM_001912.5:c.105G>A, NM_001912.4:c.105G>A, NM_145918.3:c.105G>A, NM_145918.2:c.105G>A, NM_001257971.2:c.105G>A, NM_001257971.1:c.105G>A, NM_001257972.2:c.105G>A, NM_001257972.1:c.105G>A, NM_001382757.1:c.105G>A, NM_001382767.1:c.105G>A, NM_001382768.1:c.105G>A, NM_001382766.1:c.105G>A, NP_001903.1:p.Met35Ile, NP_666023.1:p.Met35Ile, NP_001244900.1:p.Met35Ile, NP_001244901.1:p.Met35Ile, NP_001369686.1:p.Met35Ile, NP_001369696.1:p.Met35Ile, NP_001369697.1:p.Met35Ile, NP_001369695.1:p.Met35Ile

Select item 143610323420.

rs1436103234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:87730388 (GRCh38)
9:90345303 (GRCh37)
Canonical SPDI:: NC_000009.12:87730387:T:C
Gene:: CTSL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87730388T>C, NC_000009.11:g.90345303T>C, NM_001912.5:c.792T>C, NM_001912.4:c.792T>C, NM_145918.3:c.792T>C, NM_145918.2:c.792T>C, NM_001257971.2:c.792T>C, NM_001257971.1:c.792T>C, NM_001257972.2:c.792T>C, NM_001257972.1:c.792T>C, NM_001257973.2:c.246T>C, NM_001257973.1:c.246T>C, NM_001382757.1:c.792T>C, NM_001382758.1:c.627T>C

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