Canonical Allele Identifier: CA8255597

Gene: MC1R

Linked Data

• ClinVar Variation Id: 265230
• ClinVar RCV Id: RCV000254860 ; RCV000470714
• dbSNP Id: rs201326893
• ExAC: 16:89986122 C / A
• gnomAD v2: 16-89986122-C-A
• gnomAD v3: 16-89919714-C-A
• gnomAD v4: 16-89919714-C-A
• COSMIC: COSM2923846
• MyVariant Identifiers: chr16:g.89986122C>A (hg19) ; chr16:g.89919714C>A (hg38)
• PubMed: PMID:11933208 ; PMID:15221796 ; PMID:15998953 ; PMID:16567973 ; PMID:17072629 ; PMID:17434924 ; PMID:17496785 ; PMID:18795926 ; PMID:19269164 ; PMID:19585506 ; PMID:20629734 ; PMID:20876876 ; PMID:22978401 ; PMID:23522749

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919714C>A , CM000678.2:g.89919714C>A	GRCh38
NC_000016.9:g.89986122C>A , CM000678.1:g.89986122C>A	GRCh37
NC_000016.8:g.88513623C>A	NCBI36
NG_012026.1:g.6836C>A
NG_027810.1:g.2706C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.456C>A MANE Select	ENSP00000451605.1:p.Tyr152Ter
ENST00000639847.1:c.456C>A	ENSP00000492011.1:p.Tyr152Ter
ENST00000555147.1:c.456C>A	ENSP00000451605.1:p.Tyr152Ter
ENST00000555427.1:c.456C>A	ENSP00000451760.1:p.Tyr152Ter
ENST00000556922.1:c.456C>A	ENSP00000451560.1:p.Tyr152Ter
NM_002386.3:c.456C>A	NP_002377.4:p.Tyr152Ter
NM_002386.4:c.456C>A MANE Select	NP_002377.4:p.Tyr152Ter