Canonical Allele Identifier: CA8255718

Gene: MC1R

Linked Data

• dbSNP Id: rs760716521
• ExAC: 16:89986377 T / TA
• gnomAD v2: 16-89986377-T-TA
• MyVariant Identifiers: chr16:g.89986377_89986378insA (hg19) ; chr16:g.89919969_89919970insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919972dup , CM000678.2:g.89919972dup	GRCh38
NC_000016.9:g.89986380dup , CM000678.1:g.89986380dup	GRCh37
NC_000016.8:g.88513881dup	NCBI36
NG_012026.1:g.7094dup
NG_027810.1:g.2964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.714dup MANE Select	ENSP00000451605.1:p.Gly239ArgfsTer?
ENST00000639847.1:c.714dup	ENSP00000492011.1:p.Gly239ArgfsTer?
ENST00000555147.1:c.714dup	ENSP00000451605.1:p.Gly239ArgfsTer?
ENST00000555427.1:c.714dup	ENSP00000451760.1:p.Gly239ArgfsTer?
ENST00000556922.1:c.714dup	ENSP00000451560.1:p.Gly239ArgfsTer?
NM_002386.3:c.714dup	NP_002377.4:p.Gly239ArgfsTer?
NM_002386.4:c.714dup MANE Select	NP_002377.4:p.Gly239ArgfsTer?