Canonical Allele Identifier: CA966931
Gene: AGL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.99891337G>A
GRCh37 chr1:g.100356893G>A
Revel Score:
ENST00000361915 (MANE Select) 0.235
ENST00000370165 0.235
ENST00000370163 0.235
ENST00000294724 0.235
ENST00000361302 0.235
ENST00000370161 0.235
ENST00000361522 0.235
gnomAD v2:
1:100356893 G / A
gnomAD v3:
1:99891337 G / A
gnomAD v4:
chr1-99891337-G-A
Joint Max Group AF 0.00232689 (EAS)
Genomes Max Group AF 0.0011897 (EAS)
Exomes Max Group AF 0.00237553 (EAS)
ClinVar RCV:
RCV000542111
RCV002528305
ClinVar Variation:
456478
dbSNP:
147977213
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99891337G>A , CM000663.2:g.99891337G>A GRCh38
NC_000001.10:g.100356893G>A , CM000663.1:g.100356893G>A GRCh37
NC_000001.9:g.100129481G>A NCBI36
NG_012865.1:g.46254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.2930G>A MANE Select ENSP00000355106.3:p.Arg977Gln
ENST00000637337.1:n.3141G>A
ENST00000294724.8:c.2930G>A ENSP00000294724.4:p.Arg977Gln
ENST00000361302.7:c.2882G>A ENSP00000354971.3:p.Arg961Gln
ENST00000361522.4:c.2879G>A ENSP00000354635.4:p.Arg960Gln
ENST00000361915.7:c.2930G>A ENSP00000355106.3:p.Arg977Gln
ENST00000370161.6:c.2882G>A ENSP00000359180.2:p.Arg961Gln
ENST00000370163.7:c.2930G>A ENSP00000359182.3:p.Arg977Gln
ENST00000370165.7:c.2930G>A ENSP00000359184.3:p.Arg977Gln
NM_000028.2:c.2930G>A NP_000019.2:p.Arg977Gln
NM_000642.2:c.2930G>A NP_000633.2:p.Arg977Gln
NM_000643.2:c.2930G>A NP_000634.2:p.Arg977Gln
NM_000644.2:c.2930G>A NP_000635.2:p.Arg977Gln
NM_000645.2:c.2879G>A NP_000636.2:p.Arg960Gln
NM_000646.2:c.2882G>A NP_000637.2:p.Arg961Gln
XM_005270557.1:c.2930G>A XP_005270614.1:p.Arg977Gln
XM_005270557.2:c.2930G>A XP_005270614.1:p.Arg977Gln
XM_017000501.2:c.1190G>A XP_016855990.1:p.Arg397Gln
NM_000642.3:c.2930G>A MANE Select NP_000633.2:p.Arg977Gln
Search 100 bp 5'
Search 100 bp 3'