Canonical Allele Identifier: CA375280523

Gene: PLPP7

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131290176G>A , CM000671.2:g.131290176G>A	GRCh38
NC_000009.11:g.134165563G>A , CM000671.1:g.134165563G>A	GRCh37
NC_000009.10:g.133155384G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032728.4:c.179G>A MANE Select	NP_116117.3:p.Arg60His
ENST00000372264.4:c.179G>A MANE Select	ENSP00000361338.3:p.Arg60His
NM_032728.3:c.179G>A	NP_116117.3:p.Arg60His
ENST00000372261.1:c.179G>A	ENSP00000361335.1:p.Arg60His
ENST00000372264.3:c.179G>A	ENSP00000361338.3:p.Arg60His
ENST00000645295.1:c.179G>A	ENSP00000494088.1:p.Arg60His
XM_005272230.2:c.179G>A	XP_005272287.1:p.Arg60His
XM_005272230.4:c.179G>A	XP_005272287.1:p.Arg60His
XM_005272231.1:c.179G>A	XP_005272288.1:p.Arg60His
XM_005272231.2:c.179G>A	XP_005272288.1:p.Arg60His