Canonical Allele Identifier: CA377516669

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.90982281A>C (hg19) ; chr10:g.89222524A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.881T>G MANE Select	ENSP00000337354.5:p.Leu294Ter
ENST00000336233.9:c.881T>G	ENSP00000337354.5:p.Leu294Ter
ENST00000371837.5:c.713T>G	ENSP00000360903.1:p.Leu238Ter
ENST00000456827.5:c.533T>G	ENSP00000413019.2:p.Leu178Ter
NM_000235.3:c.881T>G	NP_000226.2:p.Leu294Ter
NM_001127605.2:c.881T>G	NP_001121077.1:p.Leu294Ter
NM_001288979.1:c.533T>G	NP_001275908.1:p.Leu178Ter
XM_024448023.1:c.881T>G	XP_024303791.1:p.Leu294Ter
NM_000235.4:c.881T>G MANE Select	NP_000226.2:p.Leu294Ter
NM_001127605.3:c.881T>G	NP_001121077.1:p.Leu294Ter
NM_001288979.2:c.533T>G	NP_001275908.1:p.Leu178Ter