Canonical Allele Identifier: CA2573152827
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1501778
ClinVar RCV Id: RCV002042892
dbSNP Id: rs2144392802
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919945_89919948dup , CM000678.2:g.89919945_89919948dup GRCh38
NC_000016.9:g.89986353_89986356dup , CM000678.1:g.89986353_89986356dup GRCh37
NC_000016.8:g.88513854_88513857dup NCBI36
NG_012026.1:g.7067_7070dup
NG_027810.1:g.2937_2940dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.687_690dup MANE Select ENSP00000451605.1:p.Val231ProfsTer9
ENST00000639847.1:c.687_690dup ENSP00000492011.1:p.Val231ProfsTer9
ENST00000555147.1:c.687_690dup ENSP00000451605.1:p.Val231ProfsTer9
ENST00000555427.1:c.687_690dup ENSP00000451760.1:p.Val231ProfsTer9
ENST00000556922.1:c.687_690dup ENSP00000451560.1:p.Val231ProfsTer9
NM_002386.3:c.687_690dup NP_002377.4:p.Val231ProfsTer9
NM_002386.4:c.687_690dup MANE Select NP_002377.4:p.Val231ProfsTer9
Search 100 bp 5'
Search 100 bp 3'