ClinVar

NM_001385161.1(MR1):c.786G>A (p.Ala262=)

Gene:

MR1:major histocompatibility complex, class I-related [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

• Chr1: 181052416 (on Assembly GRCh38)
• Chr1: 181021552 (on Assembly GRCh37)

Preferred name:

NM_001385161.1(MR1):c.786G>A (p.Ala262=)

HGVS:

• NC_000001.11:g.181052416G>A
• NG_042221.1:g.23992G>A
• NM_001194999.2:c.651G>A
• NM_001195000.2:c.605-1157G>A
• NM_001195035.2:c.604+2130G>A
• NM_001310213.2:c.392-1157G>A
• NM_001385161.1:c.786G>AMANE SELECT
• NM_001385162.1:c.699G>A
• NM_001385164.1:c.605-1157G>A
• NM_001531.3:c.786G>A
• NP_001181928.1:p.Ala217=
• NP_001372090.1:p.Ala262=
• NP_001372091.1:p.Ala233=
• NP_001522.1:p.Ala262=
• NC_000001.10:g.181021552G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs528551338

NCBI 1000 Genomes Browser:

rs528551338

Molecular consequence:

• NM_001195000.2:c.605-1157G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195035.2:c.604+2130G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001310213.2:c.392-1157G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001385164.1:c.605-1157G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001194999.2:c.651G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385161.1:c.786G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385162.1:c.699G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001531.3:c.786G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1