Canonical Allele Identifier: CA967473

Gene: AGL

Linked Data

• ClinVar Variation Id: 966555
• ClinVar RCV Id: RCV001241269
• dbSNP Id: rs556986901
• ExAC: 1:100387172 A / G
• gnomAD v2: 1-100387172-A-G
• gnomAD v3: 1-99921616-A-G
• gnomAD v4: 1-99921616-A-G
• MyVariant Identifiers: chr1:g.100387172A>G (hg19) ; chr1:g.99921616A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921616A>G , CM000663.2:g.99921616A>G	GRCh38
NC_000001.10:g.100387172A>G , CM000663.1:g.100387172A>G	GRCh37
NC_000001.9:g.100159760A>G	NCBI36
NG_012865.1:g.76533A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4564A>G MANE Select	ENSP00000355106.3:p.Ile1522Val
ENST00000637337.1:n.4775A>G
ENST00000294724.8:c.4564A>G	ENSP00000294724.4:p.Ile1522Val
ENST00000361302.7:c.4516A>G	ENSP00000354971.3:p.Ile1506Val
ENST00000361522.4:c.4513A>G	ENSP00000354635.4:p.Ile1505Val
ENST00000361915.7:c.4564A>G	ENSP00000355106.3:p.Ile1522Val
ENST00000370161.6:c.4516A>G	ENSP00000359180.2:p.Ile1506Val
ENST00000370163.7:c.4564A>G	ENSP00000359182.3:p.Ile1522Val
ENST00000370165.7:c.4564A>G	ENSP00000359184.3:p.Ile1522Val
NM_000028.2:c.4564A>G	NP_000019.2:p.Ile1522Val
NM_000642.2:c.4564A>G	NP_000633.2:p.Ile1522Val
NM_000643.2:c.4564A>G	NP_000634.2:p.Ile1522Val
NM_000644.2:c.4564A>G	NP_000635.2:p.Ile1522Val
NM_000645.2:c.4513A>G	NP_000636.2:p.Ile1505Val
NM_000646.2:c.4516A>G	NP_000637.2:p.Ile1506Val
XM_005270557.1:c.4564A>G	XP_005270614.1:p.Ile1522Val
XR_947626.1:n.1317+2622T>C
XR_947627.1:n.1206+2622T>C
XR_947628.1:n.1311+2622T>C
XR_947630.1:n.1249+2622T>C
XR_947632.1:n.1135+2622T>C
XR_947633.1:n.1246+2622T>C
XR_947634.1:n.660+2622T>C
XR_947635.1:n.728+2622T>C
XM_005270557.2:c.4564A>G	XP_005270614.1:p.Ile1522Val
XM_017000501.2:c.2824A>G	XP_016855990.1:p.Ile942Val
NM_000642.3:c.4564A>G MANE Select	NP_000633.2:p.Ile1522Val