Canonical Allele Identifier: CA397462164

Gene: MC1R

Linked Data

• dbSNP Id: rs1202022547
• gnomAD v2: 16-89986256-T-C
• gnomAD v4: 16-89919848-T-C
• MyVariant Identifiers: chr16:g.89986256T>C (hg19) ; chr16:g.89919848T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919848T>C , CM000678.2:g.89919848T>C	GRCh38
NC_000016.9:g.89986256T>C , CM000678.1:g.89986256T>C	GRCh37
NC_000016.8:g.88513757T>C	NCBI36
NG_012026.1:g.6970T>C
NG_027810.1:g.2840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.590T>C MANE Select	ENSP00000451605.1:p.Leu197Pro
ENST00000639847.1:c.590T>C	ENSP00000492011.1:p.Leu197Pro
ENST00000555147.1:c.590T>C	ENSP00000451605.1:p.Leu197Pro
ENST00000555427.1:c.590T>C	ENSP00000451760.1:p.Leu197Pro
ENST00000556922.1:c.590T>C	ENSP00000451560.1:p.Leu197Pro
NM_002386.3:c.590T>C	NP_002377.4:p.Leu197Pro
NM_002386.4:c.590T>C MANE Select	NP_002377.4:p.Leu197Pro