Canonical Allele Identifier: CA967002
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99892579G>A
GRCh37 chr1:g.100358135G>A
gnomAD v2:
1:100358135 G / A
gnomAD v3:
1:99892579 G / A
gnomAD v4:
chr1-99892579-G-A
Joint Max Group AF 0.00023154 (NFE)
Genomes Max Group AF 0.00012407 (NFE)
Exomes Max Group AF 0.00023412 (NFE)
ClinVar Allele:
283393
ClinVar RCV:
RCV000266808
RCV000615752
ClinVar Variation:
291340
dbSNP:
138063386
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99892579G>A , CM000663.2:g.99892579G>A GRCh38
NC_000001.10:g.100358135G>A , CM000663.1:g.100358135G>A GRCh37
NC_000001.9:g.100130723G>A NCBI36
NG_012865.1:g.47496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.3231G>A MANE Select ENSP00000355106.3:p.Lys1077=
ENST00000637337.1:n.3442G>A
ENST00000294724.8:c.3231G>A ENSP00000294724.4:p.Lys1077=
ENST00000361302.7:c.3183G>A ENSP00000354971.3:p.Lys1061=
ENST00000361522.4:c.3180G>A ENSP00000354635.4:p.Lys1060=
ENST00000361915.7:c.3231G>A ENSP00000355106.3:p.Lys1077=
ENST00000370161.6:c.3183G>A ENSP00000359180.2:p.Lys1061=
ENST00000370163.7:c.3231G>A ENSP00000359182.3:p.Lys1077=
ENST00000370165.7:c.3231G>A ENSP00000359184.3:p.Lys1077=
NM_000028.2:c.3231G>A NP_000019.2:p.Lys1077=
NM_000642.2:c.3231G>A NP_000633.2:p.Lys1077=
NM_000643.2:c.3231G>A NP_000634.2:p.Lys1077=
NM_000644.2:c.3231G>A NP_000635.2:p.Lys1077=
NM_000645.2:c.3180G>A NP_000636.2:p.Lys1060=
NM_000646.2:c.3183G>A NP_000637.2:p.Lys1061=
XM_005270557.1:c.3231G>A XP_005270614.1:p.Lys1077=
XM_005270557.2:c.3231G>A XP_005270614.1:p.Lys1077=
XM_017000501.2:c.1491G>A XP_016855990.1:p.Lys497=
NM_000642.3:c.3231G>A MANE Select NP_000633.2:p.Lys1077=
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