Canonical Allele Identifier: CA113832

Gene: LIPA

Linked Data

• ClinVar Variation Id: 77
• ClinVar RCV Id: RCV000000095 ; RCV000000096
• dbSNP Id: rs121965086
• ExAC: 10:90984925 A / G
• gnomAD v2: 10-90984925-A-G
• gnomAD v3: 10-89225168-A-G
• gnomAD v4: 10-89225168-A-G
• MyVariant Identifiers: chr10:g.90984925A>G (hg19) ; chr10:g.89225168A>G (hg38)
• PubMed: PMID:8146180 ; PMID:8598644

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89225168A>G , CM000672.2:g.89225168A>G	GRCh38
NC_000010.10:g.90984925A>G , CM000672.1:g.90984925A>G	GRCh37
NC_000010.9:g.90974905A>G	NCBI36
NG_008194.1:g.31736T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.599T>C MANE Select	ENSP00000337354.5:p.Leu200Pro
ENST00000282673.5:c.599T>C	ENSP00000282673.4:p.Leu200Pro
ENST00000336233.9:c.599T>C	ENSP00000337354.5:p.Leu200Pro
ENST00000371837.5:c.431T>C	ENSP00000360903.1:p.Leu144Pro
ENST00000428800.5:c.599T>C	ENSP00000388415.1:p.Leu200Pro
ENST00000456827.5:c.251T>C	ENSP00000413019.2:p.Leu84Pro
NM_000235.3:c.599T>C	NP_000226.2:p.Leu200Pro
NM_001127605.2:c.599T>C	NP_001121077.1:p.Leu200Pro
NM_001288979.1:c.251T>C	NP_001275908.1:p.Leu84Pro
XM_024448023.1:c.599T>C	XP_024303791.1:p.Leu200Pro
NM_000235.4:c.599T>C MANE Select	NP_000226.2:p.Leu200Pro
NM_001127605.3:c.599T>C	NP_001121077.1:p.Leu200Pro
NM_001288979.2:c.251T>C	NP_001275908.1:p.Leu84Pro