Canonical Allele Identifier: CA1926733116

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222517C= , CM000672.2:g.89222517C=	GRCh38
NC_000010.10:g.90982274C= , CM000672.1:g.90982274C=	GRCh37
NC_000010.9:g.90972254C=	NCBI36
NG_008194.1:g.34387G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.888G= MANE Select	ENSP00000337354.5:p.Trp296=
ENST00000336233.9:c.888G=	ENSP00000337354.5:p.Trp296=
ENST00000371837.5:c.720G=	ENSP00000360903.1:p.Trp240=
ENST00000456827.5:c.540G=	ENSP00000413019.2:p.Trp180=
NM_000235.3:c.888G=	NP_000226.2:p.Trp296=
NM_001127605.2:c.888G=	NP_001121077.1:p.Trp296=
NM_001288979.1:c.540G=	NP_001275908.1:p.Trp180=
XM_024448023.1:c.888G=	XP_024303791.1:p.Trp296=
NM_000235.4:c.888G= MANE Select	NP_000226.2:p.Trp296=
NM_001127605.3:c.888G=	NP_001121077.1:p.Trp296=
NM_001288979.2:c.540G=	NP_001275908.1:p.Trp180=