Canonical Allele Identifier: CA967354

Gene: AGL

Linked Data

• ClinVar Variation Id: 456501
• ClinVar RCV Id: RCV000526533 ; RCV003480666
• dbSNP Id: rs28730708
• ExAC: 1:100380997 A / G
• gnomAD v2: 1-100380997-A-G
• gnomAD v3: 1-99915441-A-G
• gnomAD v4: 1-99915441-A-G
• COSMIC: COSM1331961
• MyVariant Identifiers: chr1:g.100380997A>G (hg19) ; chr1:g.99915441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99915441A>G , CM000663.2:g.99915441A>G	GRCh38
NC_000001.10:g.100380997A>G , CM000663.1:g.100380997A>G	GRCh37
NC_000001.9:g.100153585A>G	NCBI36
NG_012865.1:g.70358A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4214A>G MANE Select	ENSP00000355106.3:p.Glu1405Gly
ENST00000637337.1:n.4425A>G
ENST00000294724.8:c.4214A>G	ENSP00000294724.4:p.Glu1405Gly
ENST00000361302.7:c.4166A>G	ENSP00000354971.3:p.Glu1389Gly
ENST00000361522.4:c.4163A>G	ENSP00000354635.4:p.Glu1388Gly
ENST00000361915.7:c.4214A>G	ENSP00000355106.3:p.Glu1405Gly
ENST00000370161.6:c.4166A>G	ENSP00000359180.2:p.Glu1389Gly
ENST00000370163.7:c.4214A>G	ENSP00000359182.3:p.Glu1405Gly
ENST00000370165.7:c.4214A>G	ENSP00000359184.3:p.Glu1405Gly
NM_000028.2:c.4214A>G	NP_000019.2:p.Glu1405Gly
NM_000642.2:c.4214A>G	NP_000633.2:p.Glu1405Gly
NM_000643.2:c.4214A>G	NP_000634.2:p.Glu1405Gly
NM_000644.2:c.4214A>G	NP_000635.2:p.Glu1405Gly
NM_000645.2:c.4163A>G	NP_000636.2:p.Glu1388Gly
NM_000646.2:c.4166A>G	NP_000637.2:p.Glu1389Gly
XM_005270557.1:c.4214A>G	XP_005270614.1:p.Glu1405Gly
XR_947626.1:n.1318-2224T>C
XR_947627.1:n.1207-2224T>C
XR_947628.1:n.1312-2224T>C
XR_947630.1:n.1250-2224T>C
XR_947632.1:n.1136-2224T>C
XR_947633.1:n.1247-2224T>C
XR_947634.1:n.661-2224T>C
XR_947635.1:n.729-2224T>C
XM_005270557.2:c.4214A>G	XP_005270614.1:p.Glu1405Gly
XM_017000501.2:c.2474A>G	XP_016855990.1:p.Glu825Gly
NM_000642.3:c.4214A>G MANE Select	NP_000633.2:p.Glu1405Gly