Canonical Allele Identifier: CA5593591

Gene: LIPA

Linked Data

• dbSNP Id: rs779697910
• ExAC: 10:90982327 C / T
• gnomAD v2: 10-90982327-C-T
• gnomAD v3: 10-89222570-C-T
• gnomAD v4: 10-89222570-C-T
• COSMIC: COSM3441376 ; COSM4897576
• MyVariant Identifiers: chr10:g.90982327C>T (hg19) ; chr10:g.89222570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222570C>T , CM000672.2:g.89222570C>T	GRCh38
NC_000010.10:g.90982327C>T , CM000672.1:g.90982327C>T	GRCh37
NC_000010.9:g.90972307C>T	NCBI36
NG_008194.1:g.34334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.835G>A MANE Select	ENSP00000337354.5:p.Val279Ile
ENST00000336233.9:c.835G>A	ENSP00000337354.5:p.Val279Ile
ENST00000371837.5:c.667G>A	ENSP00000360903.1:p.Val223Ile
ENST00000428800.5:c.835G>A	ENSP00000388415.1:p.Val279Ile
ENST00000456827.5:c.487G>A	ENSP00000413019.2:p.Val163Ile
NM_000235.3:c.835G>A	NP_000226.2:p.Val279Ile
NM_001127605.2:c.835G>A	NP_001121077.1:p.Val279Ile
NM_001288979.1:c.487G>A	NP_001275908.1:p.Val163Ile
XM_024448023.1:c.835G>A	XP_024303791.1:p.Val279Ile
NM_000235.4:c.835G>A MANE Select	NP_000226.2:p.Val279Ile
NM_001127605.3:c.835G>A	NP_001121077.1:p.Val279Ile
NM_001288979.2:c.487G>A	NP_001275908.1:p.Val163Ile