Canonical Allele Identifier: CA1926748177

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247793G= , CM000672.2:g.89247793G=	GRCh38
NC_000010.10:g.91007550G= , CM000672.1:g.91007550G=	GRCh37
NC_000010.9:g.90997530G=	NCBI36
NG_008194.1:g.9111C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-144C= MANE Select	ENSP00000337354.5:n.-1-144C=
ENST00000282673.5:c.-1-144C=	ENSP00000282673.4:n.-1-144C=
ENST00000336233.9:c.-1-144C=	ENSP00000337354.5:n.-1-144C=
ENST00000371837.5:c.62-19395C=	ENSP00000360903.1:n.62-19395C=
ENST00000428800.5:c.-145C=	ENSP00000388415.1:n.-145C=
ENST00000456827.5:c.-120+3944C=	ENSP00000413019.2:n.-120+3944C=
NM_000235.3:c.-1-144C=	NP_000226.2:n.-1-144C=
NM_001127605.2:c.-1-144C=	NP_001121077.1:n.-1-144C=
NM_001288979.1:c.-120+3944C=	NP_001275908.1:n.-120+3944C=
XM_024448023.1:c.-1-144C=	XP_024303791.1:n.-1-144C=
NM_000235.4:c.-1-144C= MANE Select	NP_000226.2:n.-1-144C=
NM_001127605.3:c.-1-144C=	NP_001121077.1:n.-1-144C=
NM_001288979.2:c.-120+3944C=	NP_001275908.1:n.-120+3944C=