Canonical Allele Identifier: CA8255535

Gene: MC1R

Linked Data

• ClinVar Variation Id: 321422
• ClinVar RCV Id: RCV000489013 ; RCV001088138 ; RCV003335306
• dbSNP Id: rs34474212
• ExAC: 16:89985913 T / C
• gnomAD v2: 16-89985913-T-C
• gnomAD v3: 16-89919505-T-C
• gnomAD v4: 16-89919505-T-C
• MyVariant Identifiers: chr16:g.89985913T>C (hg19) ; chr16:g.89919505T>C (hg38)
• PubMed: PMID:11933208 ; PMID:17434924 ; PMID:19320745

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919505T>C , CM000678.2:g.89919505T>C	GRCh38
NC_000016.9:g.89985913T>C , CM000678.1:g.89985913T>C	GRCh37
NC_000016.8:g.88513414T>C	NCBI36
NG_012026.1:g.6627T>C
NG_027810.1:g.2497T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.247T>C MANE Select	ENSP00000451605.1:p.Ser83Pro
ENST00000639847.1:c.247T>C	ENSP00000492011.1:p.Ser83Pro
ENST00000555147.1:c.247T>C	ENSP00000451605.1:p.Ser83Pro
ENST00000555427.1:c.247T>C	ENSP00000451760.1:p.Ser83Pro
ENST00000556922.1:c.247T>C	ENSP00000451560.1:p.Ser83Pro
NM_002386.3:c.247T>C	NP_002377.4:p.Ser83Pro
NM_002386.4:c.247T>C MANE Select	NP_002377.4:p.Ser83Pro