Canonical Allele Identifier: CA377516542

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89215975C>T , CM000672.2:g.89215975C>T	GRCh38
NC_000010.10:g.90975732C>T , CM000672.1:g.90975732C>T	GRCh37
NC_000010.9:g.90965712C>T	NCBI36
NG_008194.1:g.40929G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.929G>A MANE Select	NP_000226.2:p.Trp310Ter
ENST00000336233.10:c.929G>A MANE Select	ENSP00000337354.5:p.Trp310Ter
NM_000235.3:c.929G>A	NP_000226.2:p.Trp310Ter
NM_001127605.2:c.929G>A	NP_001121077.1:p.Trp310Ter
NM_001127605.3:c.929G>A	NP_001121077.1:p.Trp310Ter
NM_001288979.1:c.581G>A	NP_001275908.1:p.Trp194Ter
NM_001288979.2:c.581G>A	NP_001275908.1:p.Trp194Ter
ENST00000336233.9:c.929G>A	ENSP00000337354.5:p.Trp310Ter
ENST00000371837.5:c.761G>A	ENSP00000360903.1:p.Trp254Ter
ENST00000456827.5:c.581G>A	ENSP00000413019.2:p.Trp194Ter
XM_024448023.1:c.929G>A	XP_024303791.1:p.Trp310Ter