Canonical Allele Identifier: CA725762224

Gene: MC1R

Linked Data

• dbSNP Id: rs1222841233
• gnomAD v4: 16-89919963-T-TG
• MyVariant Identifiers: chr16:g.89986371_89986372insG (hg19) ; chr16:g.89919963_89919964insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919965dup , CM000678.2:g.89919965dup	GRCh38
NC_000016.9:g.89986373dup , CM000678.1:g.89986373dup	GRCh37
NC_000016.8:g.88513874dup	NCBI36
NG_012026.1:g.7087dup
NG_027810.1:g.2957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.707dup MANE Select	ENSP00000451605.1:p.Leu237ProfsTer2
ENST00000639847.1:c.707dup	ENSP00000492011.1:p.Leu237ProfsTer2
ENST00000555147.1:c.707dup	ENSP00000451605.1:p.Leu237ProfsTer2
ENST00000555427.1:c.707dup	ENSP00000451760.1:p.Leu237ProfsTer2
ENST00000556922.1:c.707dup	ENSP00000451560.1:p.Leu237ProfsTer2
NM_002386.3:c.707dup	NP_002377.4:p.Leu237ProfsTer2
NM_002386.4:c.707dup MANE Select	NP_002377.4:p.Leu237ProfsTer2