Canonical Allele Identifier: CA123865

Gene: MC1R

Linked Data

• ClinVar Variation Id: 14309
• ClinVar RCV Id: RCV000015380 ; RCV000413549
• dbSNP Id: rs1805006
• ExAC: 16:89985918 C / A
• gnomAD v2: 16-89985918-C-A
• gnomAD v3: 16-89919510-C-A
• gnomAD v4: 16-89919510-C-A
• MyVariant Identifiers: chr16:g.89985918C>A (hg19) ; chr16:g.89919510C>A (hg38)
• PubMed: PMID:8894704 ; PMID:14757863 ; PMID:17616515 ; PMID:18366057

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919510C>A , CM000678.2:g.89919510C>A	GRCh38
NC_000016.9:g.89985918C>A , CM000678.1:g.89985918C>A	GRCh37
NC_000016.8:g.88513419C>A	NCBI36
NG_012026.1:g.6632C>A
NG_027810.1:g.2502C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.252C>A MANE Select	ENSP00000451605.1:p.Asp84Glu
ENST00000639847.1:c.252C>A	ENSP00000492011.1:p.Asp84Glu
ENST00000555147.1:c.252C>A	ENSP00000451605.1:p.Asp84Glu
ENST00000555427.1:c.252C>A	ENSP00000451760.1:p.Asp84Glu
ENST00000556922.1:c.252C>A	ENSP00000451560.1:p.Asp84Glu
NM_002386.3:c.252C>A	NP_002377.4:p.Asp84Glu
NM_002386.4:c.252C>A MANE Select	NP_002377.4:p.Asp84Glu