Canonical Allele Identifier: CA5593532
Gene: LIPA HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.89215019T>C
GRCh37 chr10:g.90974776T>C
Revel Score:
ENST00000336233 (MANE Select) 0.537
ENST00000371837 0.537
ENST00000371829 0.537
ENST00000541980 0.537
ENST00000354621 0.537
ENST00000456827 0.537
ENST00000425287 0.537
gnomAD v2:
10:90974776 T / C
gnomAD v3:
10:89215019 T / C
gnomAD v4:
chr10-89215019-T-C
Joint Max Group AF 0.0117294 (EAS)
Genomes Max Group AF 0.00734818 (EAS)
Exomes Max Group AF 0.01207012 (EAS)
ClinVar Allele:
323828
ClinVar RCV:
RCV000270478
RCV000596255
RCV000904697
ClinVar Variation:
301573
dbSNP:
143793106
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89215019T>C , CM000672.2:g.89215019T>C GRCh38
NC_000010.10:g.90974776T>C , CM000672.1:g.90974776T>C GRCh37
NC_000010.9:g.90964756T>C NCBI36
NG_008194.1:g.41885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.1009A>G MANE Select ENSP00000337354.5:p.Thr337Ala
ENST00000336233.9:c.1009A>G ENSP00000337354.5:p.Thr337Ala
ENST00000371837.5:c.841A>G ENSP00000360903.1:p.Thr281Ala
ENST00000456827.5:c.661A>G ENSP00000413019.2:p.Thr221Ala
NM_000235.3:c.1009A>G NP_000226.2:p.Thr337Ala
NM_001127605.2:c.1009A>G NP_001121077.1:p.Thr337Ala
NM_001288979.1:c.661A>G NP_001275908.1:p.Thr221Ala
XM_024448023.1:c.1009A>G XP_024303791.1:p.Thr337Ala
NM_000235.4:c.1009A>G MANE Select NP_000226.2:p.Thr337Ala
NM_001127605.3:c.1009A>G NP_001121077.1:p.Thr337Ala
NM_001288979.2:c.661A>G NP_001275908.1:p.Thr221Ala
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