Canonical Allele Identifier: CA385217017

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56350900T>A (hg19) ; chr12:g.55957116T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957116T>A , CM000674.2:g.55957116T>A	GRCh38
NC_000012.11:g.56350900T>A , CM000674.1:g.56350900T>A	GRCh37
NC_000012.10:g.54637167T>A	NCBI36
NG_028086.1:g.14597A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1187A>T MANE Select	ENSP00000448828.1:p.Glu396Val
ENST00000449260.6:c.1187A>T	ENSP00000402758.2:p.Glu396Val
ENST00000547137.5:c.1025A>T	ENSP00000448849.1:p.Glu342Val
ENST00000548493.5:c.1187A>T	ENSP00000447374.1:p.Glu396Val
ENST00000548747.5:c.1187A>T	ENSP00000448828.1:p.Glu396Val
ENST00000548803.5:c.671-57A>T	ENSP00000447732.1:n.671-57A>T
ENST00000549404.5:c.780-57A>T
ENST00000549564.1:n.227A>T
ENST00000550447.5:c.359-1253A>T	ENSP00000448029.1:n.359-1253A>T
ENST00000550464.5:c.929A>T	ENSP00000450036.1:p.Glu310Val
ENST00000552882.5:c.1187A>T	ENSP00000449690.1:p.Glu396Val
NM_001200053.1:c.929A>T	NP_001186982.1:p.Glu310Val
NM_001200054.1:c.1187A>T	NP_001186983.1:p.Glu396Val
NM_006928.4:c.1187A>T	NP_008859.1:p.Glu396Val
XM_006719569.1:c.1187A>T	XP_006719632.1:p.Glu396Val
XM_011538685.1:c.1187A>T	XP_011536987.1:p.Glu396Val
XM_011538686.1:c.1118-57A>T	XP_011536988.1:n.1118-57A>T
XM_011538687.1:c.1118-57A>T	XP_011536989.1:n.1118-57A>T
NM_001320121.1:c.1118-57A>T	NP_001307050.1:n.1118-57A>T
NM_001320122.1:c.1118-57A>T	NP_001307051.1:n.1118-57A>T
NM_001384361.1:c.1187A>T MANE Select	NP_001371290.1:p.Glu396Val
NM_006928.5:c.1187A>T	NP_008859.1:p.Glu396Val