Canonical Allele Identifier: CA1926746222

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89243084G= , CM000672.2:g.89243084G=	GRCh38
NC_000010.10:g.91002841G= , CM000672.1:g.91002841G=	GRCh37
NC_000010.9:g.90992821G=	NCBI36
NG_008194.1:g.13820C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.229+2592C= MANE Select	ENSP00000337354.5:n.229+2592C=
ENST00000282673.5:c.229+2592C=	ENSP00000282673.4:n.229+2592C=
ENST00000336233.9:c.229+2592C=	ENSP00000337354.5:n.229+2592C=
ENST00000371837.5:c.62-14686C=	ENSP00000360903.1:n.62-14686C=
ENST00000428800.5:c.229+2592C=	ENSP00000388415.1:n.229+2592C=
ENST00000456827.5:c.-120+8653C=	ENSP00000413019.2:n.-120+8653C=
NM_000235.3:c.229+2592C=	NP_000226.2:n.229+2592C=
NM_001127605.2:c.229+2592C=	NP_001121077.1:n.229+2592C=
NM_001288979.1:c.-120+8653C=	NP_001275908.1:n.-120+8653C=
XM_024448023.1:c.229+2592C=	XP_024303791.1:n.229+2592C=
NM_000235.4:c.229+2592C= MANE Select	NP_000226.2:n.229+2592C=
NM_001127605.3:c.229+2592C=	NP_001121077.1:n.229+2592C=
NM_001288979.2:c.-120+8653C=	NP_001275908.1:n.-120+8653C=