Canonical Allele Identifier: CA354830681

Gene: PLS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142684139T>G , CM000665.2:g.142684139T>G	GRCh38
NC_000003.11:g.142402981T>G , CM000665.1:g.142402981T>G	GRCh37
NC_000003.10:g.143885671T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145319.2:c.713T>G MANE Select	NP_001138791.1:p.Leu238Arg
ENST00000457734.7:c.713T>G MANE Select	ENSP00000387890.2:p.Leu238Arg
NM_001145319.1:c.713T>G	NP_001138791.1:p.Leu238Arg
NM_001172312.1:c.713T>G	NP_001165783.1:p.Leu238Arg
NM_001172312.2:c.713T>G	NP_001165783.1:p.Leu238Arg
NM_002670.2:c.713T>G	NP_002661.2:p.Leu238Arg
NM_002670.3:c.713T>G	NP_002661.2:p.Leu238Arg
ENST00000337777.7:c.713T>G	ENSP00000336831.3:p.Leu238Arg
ENST00000457734.6:c.713T>G	ENSP00000387890.2:p.Leu238Arg
ENST00000476044.5:c.476T>G	ENSP00000417481.1:p.Leu159Arg
ENST00000497002.1:c.713T>G	ENSP00000418700.1:p.Leu238Arg
XM_006713660.2:c.713T>G	XP_006713723.1:p.Leu238Arg
XM_006713660.3:c.713T>G	XP_006713723.1:p.Leu238Arg
XM_011512900.1:c.713T>G	XP_011511202.1:p.Leu238Arg
XM_011512900.2:c.713T>G	XP_011511202.1:p.Leu238Arg
XM_011512901.1:c.713T>G	XP_011511203.1:p.Leu238Arg
XM_011512902.1:c.713T>G	XP_011511204.1:p.Leu238Arg
XM_011512903.1:c.713T>G	XP_011511205.1:p.Leu238Arg
XM_011512903.2:c.713T>G	XP_011511205.1:p.Leu238Arg
XM_017006626.1:c.713T>G	XP_016862115.1:p.Leu238Arg
XM_017006627.1:c.713T>G	XP_016862116.1:p.Leu238Arg