Canonical Allele Identifier: CA377516657

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.90982276A>G (hg19) ; chr10:g.89222519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222519A>G , CM000672.2:g.89222519A>G	GRCh38
NC_000010.10:g.90982276A>G , CM000672.1:g.90982276A>G	GRCh37
NC_000010.9:g.90972256A>G	NCBI36
NG_008194.1:g.34385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.886T>C MANE Select	ENSP00000337354.5:p.Trp296Arg
ENST00000336233.9:c.886T>C	ENSP00000337354.5:p.Trp296Arg
ENST00000371837.5:c.718T>C	ENSP00000360903.1:p.Trp240Arg
ENST00000456827.5:c.538T>C	ENSP00000413019.2:p.Trp180Arg
NM_000235.3:c.886T>C	NP_000226.2:p.Trp296Arg
NM_001127605.2:c.886T>C	NP_001121077.1:p.Trp296Arg
NM_001288979.1:c.538T>C	NP_001275908.1:p.Trp180Arg
XM_024448023.1:c.886T>C	XP_024303791.1:p.Trp296Arg
NM_000235.4:c.886T>C MANE Select	NP_000226.2:p.Trp296Arg
NM_001127605.3:c.886T>C	NP_001121077.1:p.Trp296Arg
NM_001288979.2:c.538T>C	NP_001275908.1:p.Trp180Arg