Canonical Allele Identifier: CA377518417

Gene: LIPA

Linked Data

• ClinVar Variation Id: 2586383
• ClinVar RCV Id: RCV003368315
• MyVariant Identifiers: chr10:g.91005546T>A (hg19) ; chr10:g.89245789T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89245789T>A , CM000672.2:g.89245789T>A	GRCh38
NC_000010.10:g.91005546T>A , CM000672.1:g.91005546T>A	GRCh37
NC_000010.9:g.90995526T>A	NCBI36
NG_008194.1:g.11115A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.116A>T MANE Select	ENSP00000337354.5:p.Glu39Val
ENST00000282673.5:c.116A>T	ENSP00000282673.4:p.Glu39Val
ENST00000336233.9:c.116A>T	ENSP00000337354.5:p.Glu39Val
ENST00000371837.5:c.62-17391A>T	ENSP00000360903.1:n.62-17391A>T
ENST00000428800.5:c.116A>T	ENSP00000388415.1:p.Glu39Val
ENST00000456827.5:c.-120+5948A>T	ENSP00000413019.2:n.-120+5948A>T
NM_000235.3:c.116A>T	NP_000226.2:p.Glu39Val
NM_001127605.2:c.116A>T	NP_001121077.1:p.Glu39Val
NM_001288979.1:c.-120+5948A>T	NP_001275908.1:n.-120+5948A>T
XM_024448023.1:c.116A>T	XP_024303791.1:p.Glu39Val
NM_000235.4:c.116A>T MANE Select	NP_000226.2:p.Glu39Val
NM_001127605.3:c.116A>T	NP_001121077.1:p.Glu39Val
NM_001288979.2:c.-120+5948A>T	NP_001275908.1:n.-120+5948A>T