Canonical Allele Identifier: CA397462720

Gene: MC1R

Linked Data

• ClinVar Variation Id: 887986
• ClinVar RCV Id: RCV001121052
• dbSNP Id: rs2045702612
• MyVariant Identifiers: chr16:g.89986343A>G (hg19) ; chr16:g.89919935A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919935A>G , CM000678.2:g.89919935A>G	GRCh38
NC_000016.9:g.89986343A>G , CM000678.1:g.89986343A>G	GRCh37
NC_000016.8:g.88513844A>G	NCBI36
NG_012026.1:g.7057A>G
NG_027810.1:g.2927A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.677A>G MANE Select	ENSP00000451605.1:p.Lys226Arg
ENST00000639847.1:c.677A>G	ENSP00000492011.1:p.Lys226Arg
ENST00000555147.1:c.677A>G	ENSP00000451605.1:p.Lys226Arg
ENST00000555427.1:c.677A>G	ENSP00000451760.1:p.Lys226Arg
ENST00000556922.1:c.677A>G	ENSP00000451560.1:p.Lys226Arg
NM_002386.3:c.677A>G	NP_002377.4:p.Lys226Arg
NM_002386.4:c.677A>G MANE Select	NP_002377.4:p.Lys226Arg