Canonical Allele Identifier: CA2722468090

Gene: LIPA

Linked Data

• dbSNP Id: rs2133409672

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214166dup , CM000672.2:g.89214166dup	GRCh38
NC_000010.10:g.90973923dup , CM000672.1:g.90973923dup	GRCh37
NC_000010.9:g.90963903dup	NCBI36
NG_008194.1:g.42739dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*663dup MANE Select	ENSP00000337354.5:n.*663dup
ENST00000336233.9:c.*663dup	ENSP00000337354.5:n.*663dup
ENST00000371837.5:c.*663dup	ENSP00000360903.1:n.*663dup
ENST00000456827.5:c.*663dup	ENSP00000413019.2:n.*663dup
NM_000235.3:c.*663dup	NP_000226.2:n.*663dup
NM_001127605.2:c.*663dup	NP_001121077.1:n.*663dup
NM_001288979.1:c.*663dup	NP_001275908.1:n.*663dup
XM_024448023.1:c.*663dup	XP_024303791.1:n.*663dup
NM_000235.4:c.*663dup MANE Select	NP_000226.2:n.*663dup
NM_001127605.3:c.*663dup	NP_001121077.1:n.*663dup
NM_001288979.2:c.*663dup	NP_001275908.1:n.*663dup