Canonical Allele Identifier: CA354827572

Gene: PLS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142676175T>C , CM000665.2:g.142676175T>C	GRCh38
NC_000003.11:g.142395017T>C , CM000665.1:g.142395017T>C	GRCh37
NC_000003.10:g.143877707T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145319.2:c.383T>C MANE Select	NP_001138791.1:p.Phe128Ser
ENST00000457734.7:c.383T>C MANE Select	ENSP00000387890.2:p.Phe128Ser
NM_001145319.1:c.383T>C	NP_001138791.1:p.Phe128Ser
NM_001172312.1:c.383T>C	NP_001165783.1:p.Phe128Ser
NM_001172312.2:c.383T>C	NP_001165783.1:p.Phe128Ser
NM_002670.2:c.383T>C	NP_002661.2:p.Phe128Ser
NM_002670.3:c.383T>C	NP_002661.2:p.Phe128Ser
ENST00000337777.7:c.383T>C	ENSP00000336831.3:p.Phe128Ser
ENST00000457734.6:c.383T>C	ENSP00000387890.2:p.Phe128Ser
ENST00000476044.5:c.146T>C	ENSP00000417481.1:p.Phe49Ser
ENST00000497002.1:c.383T>C	ENSP00000418700.1:p.Phe128Ser
XM_006713660.2:c.383T>C	XP_006713723.1:p.Phe128Ser
XM_006713660.3:c.383T>C	XP_006713723.1:p.Phe128Ser
XM_011512900.1:c.383T>C	XP_011511202.1:p.Phe128Ser
XM_011512900.2:c.383T>C	XP_011511202.1:p.Phe128Ser
XM_011512901.1:c.383T>C	XP_011511203.1:p.Phe128Ser
XM_011512902.1:c.383T>C	XP_011511204.1:p.Phe128Ser
XM_011512903.1:c.383T>C	XP_011511205.1:p.Phe128Ser
XM_011512903.2:c.383T>C	XP_011511205.1:p.Phe128Ser
XM_017006626.1:c.383T>C	XP_016862115.1:p.Phe128Ser
XM_017006627.1:c.383T>C	XP_016862116.1:p.Phe128Ser