Canonical Allele Identifier: CA8255677

Gene: MC1R

Linked Data

• dbSNP Id: rs774579052
• ExAC: 16:89986274 TGGCCGTGCTGTACGTCCACATGCTGGCCCG / T
• gnomAD v2: 16-89986274-TGGCCGTGCTGTACGTCCACATGCTGGCCCG-T
• gnomAD v4: 16-89919866-TGGCCGTGCTGTACGTCCACATGCTGGCCCG-T
• MyVariant Identifiers: chr16:g.89986275_89986304del (hg19) ; chr16:g.89919867_89919896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919871_89919900del , CM000678.2:g.89919871_89919900del	GRCh38
NC_000016.9:g.89986279_89986308del , CM000678.1:g.89986279_89986308del	GRCh37
NC_000016.8:g.88513780_88513809del	NCBI36
NG_012026.1:g.6993_7022del
NG_027810.1:g.2863_2892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.613_642del MANE Select	ENSP00000451605.1:p.Val205_Ala214del
ENST00000639847.1:c.613_642del	ENSP00000492011.1:p.Val205_Ala214del
ENST00000555147.1:c.613_642del	ENSP00000451605.1:p.Val205_Ala214del
ENST00000555427.1:c.613_642del	ENSP00000451760.1:p.Val205_Ala214del
ENST00000556922.1:c.613_642del	ENSP00000451560.1:p.Val205_Ala214del
NM_002386.3:c.613_642del	NP_002377.4:p.Val205_Ala214del
NM_002386.4:c.613_642del MANE Select	NP_002377.4:p.Val205_Ala214del