Canonical Allele Identifier: CA5593513

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214958A>G , CM000672.2:g.89214958A>G	GRCh38
NC_000010.10:g.90974715A>G , CM000672.1:g.90974715A>G	GRCh37
NC_000010.9:g.90964695A>G	NCBI36
NG_008194.1:g.41946T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.1070T>C MANE Select	NP_000226.2:p.Leu357Pro
ENST00000336233.10:c.1070T>C MANE Select	ENSP00000337354.5:p.Leu357Pro
NM_000235.3:c.1070T>C	NP_000226.2:p.Leu357Pro
NM_001127605.2:c.1070T>C	NP_001121077.1:p.Leu357Pro
NM_001127605.3:c.1070T>C	NP_001121077.1:p.Leu357Pro
NM_001288979.1:c.722T>C	NP_001275908.1:p.Leu241Pro
NM_001288979.2:c.722T>C	NP_001275908.1:p.Leu241Pro
ENST00000336233.9:c.1070T>C	ENSP00000337354.5:p.Leu357Pro
ENST00000371837.5:c.902T>C	ENSP00000360903.1:p.Leu301Pro
ENST00000456827.5:c.722T>C	ENSP00000413019.2:p.Leu241Pro
XM_024448023.1:c.1070T>C	XP_024303791.1:p.Leu357Pro