Canonical Allele Identifier: CA1926748109

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247626A= , CM000672.2:g.89247626A=	GRCh38
NC_000010.10:g.91007383A= , CM000672.1:g.91007383A=	GRCh37
NC_000010.9:g.90997363A=	NCBI36
NG_008194.1:g.9278T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.23T= MANE Select	ENSP00000337354.5:p.Leu8=
ENST00000282673.5:c.23T=	ENSP00000282673.4:p.Leu8=
ENST00000336233.9:c.23T=	ENSP00000337354.5:p.Leu8=
ENST00000371837.5:c.62-19228T=	ENSP00000360903.1:n.62-19228T=
ENST00000428800.5:c.23T=	ENSP00000388415.1:p.Leu8=
ENST00000456827.5:c.-120+4111T=	ENSP00000413019.2:n.-120+4111T=
NM_000235.3:c.23T=	NP_000226.2:p.Leu8=
NM_001127605.2:c.23T=	NP_001121077.1:p.Leu8=
NM_001288979.1:c.-120+4111T=	NP_001275908.1:n.-120+4111T=
XM_024448023.1:c.23T=	XP_024303791.1:p.Leu8=
NM_000235.4:c.23T= MANE Select	NP_000226.2:p.Leu8=
NM_001127605.3:c.23T=	NP_001121077.1:p.Leu8=
NM_001288979.2:c.-120+4111T=	NP_001275908.1:n.-120+4111T=