Canonical Allele Identifier: CA8255603

Gene: MC1R

Linked Data

• ClinVar Variation Id: 834818
• ClinVar RCV Id: RCV001035581 ; RCV003736962
• dbSNP Id: rs201975178
• ExAC: 16:89986133 T / C
• gnomAD v2: 16-89986133-T-C
• gnomAD v3: 16-89919725-T-C
• gnomAD v4: 16-89919725-T-C
• MyVariant Identifiers: chr16:g.89986133T>C (hg19) ; chr16:g.89919725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919725T>C , CM000678.2:g.89919725T>C	GRCh38
NC_000016.9:g.89986133T>C , CM000678.1:g.89986133T>C	GRCh37
NC_000016.8:g.88513634T>C	NCBI36
NG_012026.1:g.6847T>C
NG_027810.1:g.2717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.467T>C MANE Select	ENSP00000451605.1:p.Val156Ala
ENST00000639847.1:c.467T>C	ENSP00000492011.1:p.Val156Ala
ENST00000555147.1:c.467T>C	ENSP00000451605.1:p.Val156Ala
ENST00000555427.1:c.467T>C	ENSP00000451760.1:p.Val156Ala
ENST00000556922.1:c.467T>C	ENSP00000451560.1:p.Val156Ala
NM_002386.3:c.467T>C	NP_002377.4:p.Val156Ala
NM_002386.4:c.467T>C MANE Select	NP_002377.4:p.Val156Ala