Canonical Allele Identifier: CA8255634

Gene: MC1R

Linked Data

• ClinVar Variation Id: 548659
• ClinVar RCV Id: RCV000662300 ; RCV000851261 ; RCV002530596
• dbSNP Id: rs373224783
• ExAC: 16:89986178 C / G
• gnomAD v2: 16-89986178-C-G
• gnomAD v3: 16-89919770-C-G
• gnomAD v4: 16-89919770-C-G
• MyVariant Identifiers: chr16:g.89986178C>G (hg19) ; chr16:g.89919770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919770C>G , CM000678.2:g.89919770C>G	GRCh38
NC_000016.9:g.89986178C>G , CM000678.1:g.89986178C>G	GRCh37
NC_000016.8:g.88513679C>G	NCBI36
NG_012026.1:g.6892C>G
NG_027810.1:g.2762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.512C>G MANE Select	ENSP00000451605.1:p.Ala171Gly
ENST00000639847.1:c.512C>G	ENSP00000492011.1:p.Ala171Gly
ENST00000555147.1:c.512C>G	ENSP00000451605.1:p.Ala171Gly
ENST00000555427.1:c.512C>G	ENSP00000451760.1:p.Ala171Gly
ENST00000556922.1:c.512C>G	ENSP00000451560.1:p.Ala171Gly
NM_002386.3:c.512C>G	NP_002377.4:p.Ala171Gly
NM_002386.4:c.512C>G MANE Select	NP_002377.4:p.Ala171Gly