Canonical Allele Identifier: CA16040839
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 370992
ClinVar RCV Id: RCV000412306
dbSNP Id: rs531425980
COSMIC: COSM892900

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99891336C>T , CM000663.2:g.99891336C>T GRCh38
NC_000001.10:g.100356892C>T , CM000663.1:g.100356892C>T GRCh37
NC_000001.9:g.100129480C>T NCBI36
NG_012865.1:g.46253C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.2929C>T MANE Select ENSP00000355106.3:p.Arg977Ter
ENST00000637337.1:n.3140C>T
ENST00000294724.8:c.2929C>T ENSP00000294724.4:p.Arg977Ter
ENST00000361302.7:c.2881C>T ENSP00000354971.3:p.Arg961Ter
ENST00000361522.4:c.2878C>T ENSP00000354635.4:p.Arg960Ter
ENST00000361915.7:c.2929C>T ENSP00000355106.3:p.Arg977Ter
ENST00000370161.6:n.2881C>T ENSP00000359180.2:p.Arg961Ter
ENST00000370163.7:c.2929C>T ENSP00000359182.3:p.Arg977Ter
ENST00000370165.7:c.2929C>T ENSP00000359184.3:p.Arg977Ter
NM_000028.2:c.2929C>T NP_000019.2:p.Arg977Ter
NM_000642.2:c.2929C>T NP_000633.2:p.Arg977Ter
NM_000643.2:c.2929C>T NP_000634.2:p.Arg977Ter
NM_000644.2:c.2929C>T NP_000635.2:p.Arg977Ter
NM_000645.2:c.2878C>T NP_000636.2:p.Arg960Ter
NM_000646.2:c.2881C>T NP_000637.2:p.Arg961Ter
XM_005270557.1:c.2929C>T XP_005270614.1:p.Arg977Ter
XM_005270557.2:c.2929C>T XP_005270614.1:p.Arg977Ter
XM_017000501.2:c.1189C>T XP_016855990.1:p.Arg397Ter
NM_000642.3:c.2929C>T MANE Select NP_000633.2:p.Arg977Ter