Canonical Allele Identifier: CA377517093

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89223812C>A , CM000672.2:g.89223812C>A	GRCh38
NC_000010.10:g.90983569C>A , CM000672.1:g.90983569C>A	GRCh37
NC_000010.9:g.90973549C>A	NCBI36
NG_008194.1:g.33092G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.694G>T MANE Select	NP_000226.2:p.Glu232Ter
ENST00000336233.10:c.694G>T MANE Select	ENSP00000337354.5:p.Glu232Ter
NM_000235.3:c.694G>T	NP_000226.2:p.Glu232Ter
NM_001127605.2:c.694G>T	NP_001121077.1:p.Glu232Ter
NM_001127605.3:c.694G>T	NP_001121077.1:p.Glu232Ter
NM_001288979.1:c.346G>T	NP_001275908.1:p.Glu116Ter
NM_001288979.2:c.346G>T	NP_001275908.1:p.Glu116Ter
ENST00000336233.9:c.694G>T	ENSP00000337354.5:p.Glu232Ter
ENST00000371837.5:c.526G>T	ENSP00000360903.1:p.Glu176Ter
ENST00000428800.5:c.694G>T	ENSP00000388415.1:p.Glu232Ter
ENST00000456827.5:c.346G>T	ENSP00000413019.2:p.Glu116Ter
XM_024448023.1:c.694G>T	XP_024303791.1:p.Glu232Ter