Canonical Allele Identifier: CA8255544

Gene: MC1R

Linked Data

• dbSNP Id: rs2228479
• ExAC: 16:89985940 G / C
• gnomAD v2: 16-89985940-G-C
• gnomAD v3: 16-89919532-G-C
• gnomAD v4: 16-89919532-G-C
• MyVariant Identifiers: chr16:g.89985940G>C (hg19) ; chr16:g.89919532G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919532G>C , CM000678.2:g.89919532G>C	GRCh38
NC_000016.9:g.89985940G>C , CM000678.1:g.89985940G>C	GRCh37
NC_000016.8:g.88513441G>C	NCBI36
NG_012026.1:g.6654G>C
NG_027810.1:g.2524G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.274G>C MANE Select	ENSP00000451605.1:p.Val92Leu
ENST00000639847.1:c.274G>C	ENSP00000492011.1:p.Val92Leu
ENST00000555147.1:c.274G>C	ENSP00000451605.1:p.Val92Leu
ENST00000555427.1:c.274G>C	ENSP00000451760.1:p.Val92Leu
ENST00000556922.1:c.274G>C	ENSP00000451560.1:p.Val92Leu
NM_002386.3:c.274G>C	NP_002377.4:p.Val92Leu
NM_002386.4:c.274G>C MANE Select	NP_002377.4:p.Val92Leu