Canonical Allele Identifier: CA377516751

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.90982320G>A (hg19) ; chr10:g.89222563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222563G>A , CM000672.2:g.89222563G>A	GRCh38
NC_000010.10:g.90982320G>A , CM000672.1:g.90982320G>A	GRCh37
NC_000010.9:g.90972300G>A	NCBI36
NG_008194.1:g.34341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.842C>T MANE Select	ENSP00000337354.5:p.Thr281Ile
ENST00000336233.9:c.842C>T	ENSP00000337354.5:p.Thr281Ile
ENST00000371837.5:c.674C>T	ENSP00000360903.1:p.Thr225Ile
ENST00000428800.5:c.842C>T	ENSP00000388415.1:p.Thr281Ile
ENST00000456827.5:c.494C>T	ENSP00000413019.2:p.Thr165Ile
NM_000235.3:c.842C>T	NP_000226.2:p.Thr281Ile
NM_001127605.2:c.842C>T	NP_001121077.1:p.Thr281Ile
NM_001288979.1:c.494C>T	NP_001275908.1:p.Thr165Ile
XM_024448023.1:c.842C>T	XP_024303791.1:p.Thr281Ile
NM_000235.4:c.842C>T MANE Select	NP_000226.2:p.Thr281Ile
NM_001127605.3:c.842C>T	NP_001121077.1:p.Thr281Ile
NM_001288979.2:c.494C>T	NP_001275908.1:p.Thr165Ile