Canonical Allele Identifier: CA377518581

Gene: LIPA

Linked Data

• ClinVar Variation Id: 1284571
• ClinVar RCV Id: RCV001699984
• dbSNP Id: rs2133468001
• MyVariant Identifiers: chr10:g.91007361C>T (hg19) ; chr10:g.89247604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247604C>T , CM000672.2:g.89247604C>T	GRCh38
NC_000010.10:g.91007361C>T , CM000672.1:g.91007361C>T	GRCh37
NC_000010.9:g.90997341C>T	NCBI36
NG_008194.1:g.9300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.45G>A MANE Select	ENSP00000337354.5:p.Trp15Ter
ENST00000282673.5:c.45G>A	ENSP00000282673.4:p.Trp15Ter
ENST00000336233.9:c.45G>A	ENSP00000337354.5:p.Trp15Ter
ENST00000371837.5:c.62-19206G>A	ENSP00000360903.1:n.62-19206G>A
ENST00000428800.5:c.45G>A	ENSP00000388415.1:p.Trp15Ter
ENST00000456827.5:c.-120+4133G>A	ENSP00000413019.2:n.-120+4133G>A
NM_000235.3:c.45G>A	NP_000226.2:p.Trp15Ter
NM_001127605.2:c.45G>A	NP_001121077.1:p.Trp15Ter
NM_001288979.1:c.-120+4133G>A	NP_001275908.1:n.-120+4133G>A
XM_024448023.1:c.45G>A	XP_024303791.1:p.Trp15Ter
NM_000235.4:c.45G>A MANE Select	NP_000226.2:p.Trp15Ter
NM_001127605.3:c.45G>A	NP_001121077.1:p.Trp15Ter
NM_001288979.2:c.-120+4133G>A	NP_001275908.1:n.-120+4133G>A