Canonical Allele Identifier: CA5593621

Gene: LIPA

Linked Data

• ClinVar Variation Id: 301576
• ClinVar RCV Id: RCV000287212 ; RCV000887810 ; RCV000478562 ; RCV001705448 ; RCV002392837 ; RCV004544508
• dbSNP Id: rs147493628
• ExAC: 10:90983509 T / A
• gnomAD v2: 10-90983509-T-A
• gnomAD v3: 10-89223752-T-A
• gnomAD v4: 10-89223752-T-A
• MyVariant Identifiers: chr10:g.90983509T>A (hg19) ; chr10:g.89223752T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89223752T>A , CM000672.2:g.89223752T>A	GRCh38
NC_000010.10:g.90983509T>A , CM000672.1:g.90983509T>A	GRCh37
NC_000010.9:g.90973489T>A	NCBI36
NG_008194.1:g.33152A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.754A>T MANE Select	ENSP00000337354.5:p.Ile252Leu
ENST00000336233.9:c.754A>T	ENSP00000337354.5:p.Ile252Leu
ENST00000371837.5:c.586A>T	ENSP00000360903.1:p.Ile196Leu
ENST00000428800.5:c.754A>T	ENSP00000388415.1:p.Ile252Leu
ENST00000456827.5:c.406A>T	ENSP00000413019.2:p.Ile136Leu
NM_000235.3:c.754A>T	NP_000226.2:p.Ile252Leu
NM_001127605.2:c.754A>T	NP_001121077.1:p.Ile252Leu
NM_001288979.1:c.406A>T	NP_001275908.1:p.Ile136Leu
XM_024448023.1:c.754A>T	XP_024303791.1:p.Ile252Leu
NM_000235.4:c.754A>T MANE Select	NP_000226.2:p.Ile252Leu
NM_001127605.3:c.754A>T	NP_001121077.1:p.Ile252Leu
NM_001288979.2:c.406A>T	NP_001275908.1:p.Ile136Leu