Canonical Allele Identifier: CA377516788

Gene: LIPA

Linked Data

• ClinVar Variation Id: 983949
• ClinVar RCV Id: RCV001263954
• dbSNP Id: rs1842714308
• MyVariant Identifiers: chr10:g.90982336T>A (hg19) ; chr10:g.89222579T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222579T>A , CM000672.2:g.89222579T>A	GRCh38
NC_000010.10:g.90982336T>A , CM000672.1:g.90982336T>A	GRCh37
NC_000010.9:g.90972316T>A	NCBI36
NG_008194.1:g.34325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.826A>T MANE Select	ENSP00000337354.5:p.Arg276Ter
ENST00000336233.9:c.826A>T	ENSP00000337354.5:p.Arg276Ter
ENST00000371837.5:c.658A>T	ENSP00000360903.1:p.Arg220Ter
ENST00000428800.5:c.826A>T	ENSP00000388415.1:p.Arg276Ter
ENST00000456827.5:c.478A>T	ENSP00000413019.2:p.Arg160Ter
NM_000235.3:c.826A>T	NP_000226.2:p.Arg276Ter
NM_001127605.2:c.826A>T	NP_001121077.1:p.Arg276Ter
NM_001288979.1:c.478A>T	NP_001275908.1:p.Arg160Ter
XM_024448023.1:c.826A>T	XP_024303791.1:p.Arg276Ter
NM_000235.4:c.826A>T MANE Select	NP_000226.2:p.Arg276Ter
NM_001127605.3:c.826A>T	NP_001121077.1:p.Arg276Ter
NM_001288979.2:c.478A>T	NP_001275908.1:p.Arg160Ter