Canonical Allele Identifier: CA377516668

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.90982280T>G (hg19) ; chr10:g.89222523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222523T>G , CM000672.2:g.89222523T>G	GRCh38
NC_000010.10:g.90982280T>G , CM000672.1:g.90982280T>G	GRCh37
NC_000010.9:g.90972260T>G	NCBI36
NG_008194.1:g.34381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.882A>C MANE Select	ENSP00000337354.5:p.Leu294Phe
ENST00000336233.9:c.882A>C	ENSP00000337354.5:p.Leu294Phe
ENST00000371837.5:c.714A>C	ENSP00000360903.1:p.Leu238Phe
ENST00000456827.5:c.534A>C	ENSP00000413019.2:p.Leu178Phe
NM_000235.3:c.882A>C	NP_000226.2:p.Leu294Phe
NM_001127605.2:c.882A>C	NP_001121077.1:p.Leu294Phe
NM_001288979.1:c.534A>C	NP_001275908.1:p.Leu178Phe
XM_024448023.1:c.882A>C	XP_024303791.1:p.Leu294Phe
NM_000235.4:c.882A>C MANE Select	NP_000226.2:p.Leu294Phe
NM_001127605.3:c.882A>C	NP_001121077.1:p.Leu294Phe
NM_001288979.2:c.534A>C	NP_001275908.1:p.Leu178Phe