Canonical Allele Identifier: CA377517189

Gene: LIPA

Linked Data

• ClinVar Variation Id: 458507
• ClinVar RCV Id: RCV002231273
• dbSNP Id: rs1554865576
• MyVariant Identifiers: chr10:g.90984868A>C (hg19) ; chr10:g.89225111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89225111A>C , CM000672.2:g.89225111A>C	GRCh38
NC_000010.10:g.90984868A>C , CM000672.1:g.90984868A>C	GRCh37
NC_000010.9:g.90974848A>C	NCBI36
NG_008194.1:g.31793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.656T>G MANE Select	ENSP00000337354.5:p.Leu219Ter
ENST00000282673.5:c.656T>G	ENSP00000282673.4:p.Leu219Ter
ENST00000336233.9:c.656T>G	ENSP00000337354.5:p.Leu219Ter
ENST00000371837.5:c.488T>G	ENSP00000360903.1:p.Leu163Ter
ENST00000428800.5:c.656T>G	ENSP00000388415.1:p.Leu219Ter
ENST00000456827.5:c.308T>G	ENSP00000413019.2:p.Leu103Ter
NM_000235.3:c.656T>G	NP_000226.2:p.Leu219Ter
NM_001127605.2:c.656T>G	NP_001121077.1:p.Leu219Ter
NM_001288979.1:c.308T>G	NP_001275908.1:p.Leu103Ter
XM_024448023.1:c.656T>G	XP_024303791.1:p.Leu219Ter
NM_000235.4:c.656T>G MANE Select	NP_000226.2:p.Leu219Ter
NM_001127605.3:c.656T>G	NP_001121077.1:p.Leu219Ter
NM_001288979.2:c.308T>G	NP_001275908.1:p.Leu103Ter