Canonical Allele Identifier: CA221390
Gene: GBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.155235829C>A
GRCh37 chr1:g.155205620C>A
Revel Score:
ENST00000427500 0.871
ENST00000428024 0.871
ENST00000368373 (MANE Select) 0.871
ENST00000327247 0.871
ENST00000536770 0.871
ENST00000536555 0.871
ENST00000402928 0.871
gnomAD v2:
1:155205620 C / A
gnomAD v4:
chr1-155235829-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
99355
ClinVar RCV:
RCV000173717
RCV001174722
RCV001249087
ClinVar Variation:
93448
dbSNP:
398123528
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235829C>A , CM000663.2:g.155235829C>A GRCh38
NC_000001.10:g.155205620C>A , CM000663.1:g.155205620C>A GRCh37
NC_000001.9:g.153472244C>A NCBI36
NG_009783.1:g.13869G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.1240G>T MANE Select ENSP00000357357.3:p.Val414Leu
ENST00000327247.9:c.1240G>T ENSP00000314508.5:p.Val414Leu
ENST00000368373.7:c.1240G>T ENSP00000357357.3:p.Val414Leu
ENST00000427500.7:c.1093G>T ENSP00000402577.2:p.Val365Leu
ENST00000428024.3:c.979G>T ENSP00000397986.2:p.Val327Leu
ENST00000464536.1:n.7G>T
ENST00000478472.1:n.231G>T
ENST00000484489.5:n.399G>T
NM_000157.3:c.1240G>T NP_000148.2:p.Val414Leu
NM_001005741.2:c.1240G>T NP_001005741.1:p.Val414Leu
NM_001005742.2:c.1240G>T NP_001005742.1:p.Val414Leu
NM_001171811.1:c.979G>T NP_001165282.1:p.Val327Leu
NM_001171812.1:c.1093G>T NP_001165283.1:p.Val365Leu
XM_006711270.1:c.1240G>T XP_006711333.1:p.Val414Leu
XM_011509407.1:c.1240G>T XP_011507709.1:p.Val414Leu
NM_000157.4:c.1240G>T MANE Select NP_000148.2:p.Val414Leu
NM_001005741.3:c.1240G>T NP_001005741.1:p.Val414Leu
NM_001005742.3:c.1240G>T NP_001005742.1:p.Val414Leu
NM_001171811.2:c.979G>T NP_001165282.1:p.Val327Leu
NM_001171812.2:c.1093G>T NP_001165283.1:p.Val365Leu
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