Canonical Allele Identifier: CA377516216

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214961A>C , CM000672.2:g.89214961A>C	GRCh38
NC_000010.10:g.90974718A>C , CM000672.1:g.90974718A>C	GRCh37
NC_000010.9:g.90964698A>C	NCBI36
NG_008194.1:g.41943T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.1067T>G MANE Select	NP_000226.2:p.Leu356Ter
ENST00000336233.10:c.1067T>G MANE Select	ENSP00000337354.5:p.Leu356Ter
NM_000235.3:c.1067T>G	NP_000226.2:p.Leu356Ter
NM_001127605.2:c.1067T>G	NP_001121077.1:p.Leu356Ter
NM_001127605.3:c.1067T>G	NP_001121077.1:p.Leu356Ter
NM_001288979.1:c.719T>G	NP_001275908.1:p.Leu240Ter
NM_001288979.2:c.719T>G	NP_001275908.1:p.Leu240Ter
ENST00000336233.9:c.1067T>G	ENSP00000337354.5:p.Leu356Ter
ENST00000371837.5:c.899T>G	ENSP00000360903.1:p.Leu300Ter
ENST00000456827.5:c.719T>G	ENSP00000413019.2:p.Leu240Ter
XM_024448023.1:c.1067T>G	XP_024303791.1:p.Leu356Ter