Canonical Allele Identifier: CA497380729
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1577762
ClinVar RCV Id: RCV002088150
dbSNP Id: rs2045696881
MyVariant Identifiers: chr16:g.89986116G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919708G>C , CM000678.2:g.89919708G>C GRCh38
NC_000016.9:g.89986116G>C , CM000678.1:g.89986116G>C GRCh37
NC_000016.8:g.88513617G>C NCBI36
NG_012026.1:g.6830G>C
NG_027810.1:g.2700G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.450G>C MANE Select ENSP00000451605.1:p.Leu150=
ENST00000639847.1:c.450G>C ENSP00000492011.1:p.Leu150=
ENST00000555147.1:c.450G>C ENSP00000451605.1:p.Leu150=
ENST00000555427.1:c.450G>C ENSP00000451760.1:p.Leu150=
ENST00000556922.1:c.450G>C ENSP00000451560.1:p.Leu150=
NM_002386.3:c.450G>C NP_002377.4:p.Leu150=
NM_002386.4:c.450G>C MANE Select NP_002377.4:p.Leu150=