Canonical Allele Identifier: CA397461991
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919826C>G , CM000678.2:g.89919826C>G GRCh38
NC_000016.9:g.89986234C>G , CM000678.1:g.89986234C>G GRCh37
NC_000016.8:g.88513735C>G NCBI36
NG_012026.1:g.6948C>G
NG_027810.1:g.2818C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.568C>G MANE Select ENSP00000451605.1:p.Leu190Val
ENST00000639847.1:c.568C>G ENSP00000492011.1:p.Leu190Val
ENST00000555147.1:c.568C>G ENSP00000451605.1:p.Leu190Val
ENST00000555427.1:c.568C>G ENSP00000451760.1:p.Leu190Val
ENST00000556922.1:c.568C>G ENSP00000451560.1:p.Leu190Val
NM_002386.3:c.568C>G NP_002377.4:p.Leu190Val
NM_002386.4:c.568C>G MANE Select NP_002377.4:p.Leu190Val