Canonical Allele Identifier: CA1926733119

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222524A= , CM000672.2:g.89222524A=	GRCh38
NC_000010.10:g.90982281A= , CM000672.1:g.90982281A=	GRCh37
NC_000010.9:g.90972261A=	NCBI36
NG_008194.1:g.34380T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.881T= MANE Select	ENSP00000337354.5:p.Leu294=
ENST00000336233.9:c.881T=	ENSP00000337354.5:p.Leu294=
ENST00000371837.5:c.713T=	ENSP00000360903.1:p.Leu238=
ENST00000456827.5:c.533T=	ENSP00000413019.2:p.Leu178=
NM_000235.3:c.881T=	NP_000226.2:p.Leu294=
NM_001127605.2:c.881T=	NP_001121077.1:p.Leu294=
NM_001288979.1:c.533T=	NP_001275908.1:p.Leu178=
XM_024448023.1:c.881T=	XP_024303791.1:p.Leu294=
NM_000235.4:c.881T= MANE Select	NP_000226.2:p.Leu294=
NM_001127605.3:c.881T=	NP_001121077.1:p.Leu294=
NM_001288979.2:c.533T=	NP_001275908.1:p.Leu178=