Canonical Allele Identifier: CA286607464

Gene: MC1R

Linked Data

• dbSNP Id: rs967629360
• gnomAD v2: 16-89986046-C-T
• gnomAD v4: 16-89919638-C-T
• MyVariant Identifiers: chr16:g.89986046C>T (hg19) ; chr16:g.89919638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919638C>T , CM000678.2:g.89919638C>T	GRCh38
NC_000016.9:g.89986046C>T , CM000678.1:g.89986046C>T	GRCh37
NC_000016.8:g.88513547C>T	NCBI36
NG_012026.1:g.6760C>T
NG_027810.1:g.2630C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.380C>T MANE Select	ENSP00000451605.1:p.Ser127Phe
ENST00000639847.1:c.380C>T	ENSP00000492011.1:p.Ser127Phe
ENST00000555147.1:c.380C>T	ENSP00000451605.1:p.Ser127Phe
ENST00000555427.1:c.380C>T	ENSP00000451760.1:p.Ser127Phe
ENST00000556922.1:c.380C>T	ENSP00000451560.1:p.Ser127Phe
NM_002386.3:c.380C>T	NP_002377.4:p.Ser127Phe
NM_002386.4:c.380C>T MANE Select	NP_002377.4:p.Ser127Phe