Canonical Allele Identifier: CA377516652

Gene: LIPA

Linked Data

• ClinVar Variation Id: 501113
• ClinVar RCV Id: RCV000591849
• dbSNP Id: rs1301990662
• gnomAD v2: 10-90982274-C-G
• gnomAD v3: 10-89222517-C-G
• gnomAD v4: 10-89222517-C-G
• MyVariant Identifiers: chr10:g.90982274C>G (hg19) ; chr10:g.89222517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222517C>G , CM000672.2:g.89222517C>G	GRCh38
NC_000010.10:g.90982274C>G , CM000672.1:g.90982274C>G	GRCh37
NC_000010.9:g.90972254C>G	NCBI36
NG_008194.1:g.34387G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.888G>C MANE Select	ENSP00000337354.5:p.Trp296Cys
ENST00000336233.9:c.888G>C	ENSP00000337354.5:p.Trp296Cys
ENST00000371837.5:c.720G>C	ENSP00000360903.1:p.Trp240Cys
ENST00000456827.5:c.540G>C	ENSP00000413019.2:p.Trp180Cys
NM_000235.3:c.888G>C	NP_000226.2:p.Trp296Cys
NM_001127605.2:c.888G>C	NP_001121077.1:p.Trp296Cys
NM_001288979.1:c.540G>C	NP_001275908.1:p.Trp180Cys
XM_024448023.1:c.888G>C	XP_024303791.1:p.Trp296Cys
NM_000235.4:c.888G>C MANE Select	NP_000226.2:p.Trp296Cys
NM_001127605.3:c.888G>C	NP_001121077.1:p.Trp296Cys
NM_001288979.2:c.540G>C	NP_001275908.1:p.Trp180Cys