Canonical Allele Identifier: CA377516765

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.90982326A>T (hg19) ; chr10:g.89222569A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222569A>T , CM000672.2:g.89222569A>T	GRCh38
NC_000010.10:g.90982326A>T , CM000672.1:g.90982326A>T	GRCh37
NC_000010.9:g.90972306A>T	NCBI36
NG_008194.1:g.34335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.836T>A MANE Select	ENSP00000337354.5:p.Val279Glu
ENST00000336233.9:c.836T>A	ENSP00000337354.5:p.Val279Glu
ENST00000371837.5:c.668T>A	ENSP00000360903.1:p.Val223Glu
ENST00000428800.5:c.836T>A	ENSP00000388415.1:p.Val279Glu
ENST00000456827.5:c.488T>A	ENSP00000413019.2:p.Val163Glu
NM_000235.3:c.836T>A	NP_000226.2:p.Val279Glu
NM_001127605.2:c.836T>A	NP_001121077.1:p.Val279Glu
NM_001288979.1:c.488T>A	NP_001275908.1:p.Val163Glu
XM_024448023.1:c.836T>A	XP_024303791.1:p.Val279Glu
NM_000235.4:c.836T>A MANE Select	NP_000226.2:p.Val279Glu
NM_001127605.3:c.836T>A	NP_001121077.1:p.Val279Glu
NM_001288979.2:c.488T>A	NP_001275908.1:p.Val163Glu