Canonical Allele Identifier: CA2242009756

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919987C= , CM000678.2:g.89919987C=	GRCh38
NC_000016.9:g.89986395C= , CM000678.1:g.89986395C=	GRCh37
NC_000016.8:g.88513896C=	NCBI36
NG_012026.1:g.7109C=
NG_027810.1:g.2979C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.729C= MANE Select	ENSP00000451605.1:p.Leu243=
ENST00000639847.1:c.729C=	ENSP00000492011.1:p.Leu243=
ENST00000555147.1:c.729C=	ENSP00000451605.1:p.Leu243=
ENST00000555427.1:c.729C=	ENSP00000451760.1:p.Leu243=
ENST00000556922.1:c.729C=	ENSP00000451560.1:p.Leu243=
NM_002386.3:c.729C=	NP_002377.4:p.Leu243=
NM_002386.4:c.729C= MANE Select	NP_002377.4:p.Leu243=