Canonical Allele Identifier: CA966464
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99876507A>G
GRCh37 chr1:g.100342063A>G
Revel Score:
ENST00000361915 (MANE Select) 0.098
ENST00000370165 0.098
ENST00000370163 0.098
ENST00000294724 0.098
ENST00000361302 0.098
ENST00000370161 0.098
ENST00000361522 0.098
gnomAD v2:
1:100342063 A / G
gnomAD v3:
1:99876507 A / G
gnomAD v4:
chr1-99876507-A-G
Joint Max Group AF 0.0006867 (AFR)
Genomes Max Group AF 0.00070685 (AFR)
Exomes Max Group AF 0.00051975 (AFR)
ClinVar RCV:
RCV000631151
RCV003480722
ClinVar Variation:
526590
dbSNP:
140375476
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99876507A>G , CM000663.2:g.99876507A>G GRCh38
NC_000001.10:g.100342063A>G , CM000663.1:g.100342063A>G GRCh37
NC_000001.9:g.100114651A>G NCBI36
NG_012865.1:g.31424A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1333A>G MANE Select ENSP00000355106.3:p.Met445Val
ENST00000637337.1:n.1544A>G
ENST00000294724.8:c.1333A>G ENSP00000294724.4:p.Met445Val
ENST00000361302.7:c.1285A>G ENSP00000354971.3:p.Met429Val
ENST00000361522.4:c.1282A>G ENSP00000354635.4:p.Met428Val
ENST00000361915.7:c.1333A>G ENSP00000355106.3:p.Met445Val
ENST00000370161.6:c.1285A>G ENSP00000359180.2:p.Met429Val
ENST00000370163.7:c.1333A>G ENSP00000359182.3:p.Met445Val
ENST00000370165.7:c.1333A>G ENSP00000359184.3:p.Met445Val
ENST00000477753.1:n.592A>G
NM_000028.2:c.1333A>G NP_000019.2:p.Met445Val
NM_000642.2:c.1333A>G NP_000633.2:p.Met445Val
NM_000643.2:c.1333A>G NP_000634.2:p.Met445Val
NM_000644.2:c.1333A>G NP_000635.2:p.Met445Val
NM_000645.2:c.1282A>G NP_000636.2:p.Met428Val
NM_000646.2:c.1285A>G NP_000637.2:p.Met429Val
XM_005270557.1:c.1333A>G XP_005270614.1:p.Met445Val
XM_005270557.2:c.1333A>G XP_005270614.1:p.Met445Val
NM_000642.3:c.1333A>G MANE Select NP_000633.2:p.Met445Val
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