Canonical Allele Identifier: CA377516641

Gene: LIPA

Linked Data

• ClinVar Variation Id: 556586
• ClinVar RCV Id: RCV000672609 ; RCV003495171
• dbSNP Id: rs1554865206
• gnomAD v4: 10-89222513-G-A
• MyVariant Identifiers: chr10:g.90982270G>A (hg19) ; chr10:g.89222513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222513G>A , CM000672.2:g.89222513G>A	GRCh38
NC_000010.10:g.90982270G>A , CM000672.1:g.90982270G>A	GRCh37
NC_000010.9:g.90972250G>A	NCBI36
NG_008194.1:g.34391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.892C>T MANE Select	ENSP00000337354.5:p.Gln298Ter
ENST00000336233.9:c.892C>T	ENSP00000337354.5:p.Gln298Ter
ENST00000371837.5:c.724C>T	ENSP00000360903.1:p.Gln242Ter
ENST00000456827.5:c.544C>T	ENSP00000413019.2:p.Gln182Ter
NM_000235.3:c.892C>T	NP_000226.2:p.Gln298Ter
NM_001127605.2:c.892C>T	NP_001121077.1:p.Gln298Ter
NM_001288979.1:c.544C>T	NP_001275908.1:p.Gln182Ter
XM_024448023.1:c.892C>T	XP_024303791.1:p.Gln298Ter
NM_000235.4:c.892C>T MANE Select	NP_000226.2:p.Gln298Ter
NM_001127605.3:c.892C>T	NP_001121077.1:p.Gln298Ter
NM_001288979.2:c.544C>T	NP_001275908.1:p.Gln182Ter