Canonical Allele Identifier: CA5593767
Gene: LIPA HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.89228334G>C
GRCh37 chr10:g.90988091G>C
Revel Score:
ENST00000336233 (MANE Select) 0.888
ENST00000371837 0.888
ENST00000371829 0.888
ENST00000541980 0.888
ENST00000354621 0.888
ENST00000456827 0.888
ENST00000425287 0.888
ENST00000542307 0.888
ENST00000428800 0.888
ENST00000282673 0.888
gnomAD v2:
10:90988091 G / C
gnomAD v4:
chr10-89228334-G-C
Joint Max Group AF 0.00001326 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar Allele:
492955
ClinVar RCV:
RCV000598187
RCV000857276
RCV001867978
ClinVar Variation:
501531
dbSNP:
767688436
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89228334G>C , CM000672.2:g.89228334G>C GRCh38
NC_000010.10:g.90988091G>C , CM000672.1:g.90988091G>C GRCh37
NC_000010.9:g.90978071G>C NCBI36
NG_008194.1:g.28570C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.294C>G MANE Select ENSP00000337354.5:p.Asn98Lys
ENST00000282673.5:c.294C>G ENSP00000282673.4:p.Asn98Lys
ENST00000336233.9:c.294C>G ENSP00000337354.5:p.Asn98Lys
ENST00000371837.5:c.126C>G ENSP00000360903.1:p.Asn42Lys
ENST00000428800.5:c.294C>G ENSP00000388415.1:p.Asn98Lys
ENST00000456827.5:c.-55C>G ENSP00000413019.2:n.-55C>G
NM_000235.3:c.294C>G NP_000226.2:p.Asn98Lys
NM_001127605.2:c.294C>G NP_001121077.1:p.Asn98Lys
NM_001288979.1:c.-55C>G NP_001275908.1:n.-55C>G
XM_024448023.1:c.294C>G XP_024303791.1:p.Asn98Lys
NM_000235.4:c.294C>G MANE Select NP_000226.2:p.Asn98Lys
NM_001127605.3:c.294C>G NP_001121077.1:p.Asn98Lys
NM_001288979.2:c.-55C>G NP_001275908.1:n.-55C>G
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