Canonical Allele Identifier: CA8255624
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 321429
ClinVar RCV Id: RCV000626151
dbSNP Id: rs780875127
ExAC: 16:89986161 T / TG
gnomAD v2: 16-89986161-T-TG
gnomAD v3: 16-89919753-T-TG
gnomAD v4: 16-89919753-T-TG
COSMIC: COSM4612591
MyVariant Identifiers: chr16:g.89986162dupG (hg19) chr16:g.89986161_89986162insG (hg19) chr16:g.89919754dupG (hg38) chr16:g.89919753_89919754insG (hg38)
PubMed: PMID:19269164
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919754dup , CM000678.2:g.89919754dup GRCh38
NC_000016.9:g.89986162dup , CM000678.1:g.89986162dup GRCh37
NC_000016.8:g.88513663dup NCBI36
NG_012026.1:g.6876dup
NG_027810.1:g.2746dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.496dup MANE Select ENSP00000451605.1:p.Ala166GlyfsTer?
ENST00000639847.1:c.496dup ENSP00000492011.1:p.Ala166GlyfsTer?
ENST00000555147.1:c.496dup ENSP00000451605.1:p.Ala166GlyfsTer?
ENST00000555427.1:c.496dup ENSP00000451760.1:p.Ala166GlyfsTer?
ENST00000556922.1:c.496dup ENSP00000451560.1:p.Ala166GlyfsTer?
NM_002386.3:c.496dup NP_002377.4:p.Ala166GlyfsTer?
NM_002386.4:c.496dup MANE Select NP_002377.4:p.Ala166GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'