Canonical Allele Identifier: CA341342615

Gene: AGL

Linked Data

• dbSNP Id: rs1287510327
• gnomAD v2: 1-100382260-T-A
• gnomAD v4: 1-99916704-T-A
• MyVariant Identifiers: chr1:g.100382260T>A (hg19) ; chr1:g.99916704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99916704T>A , CM000663.2:g.99916704T>A	GRCh38
NC_000001.10:g.100382260T>A , CM000663.1:g.100382260T>A	GRCh37
NC_000001.9:g.100154848T>A	NCBI36
NG_012865.1:g.71621T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4454T>A MANE Select	ENSP00000355106.3:p.Leu1485His
ENST00000637337.1:n.4665T>A
ENST00000294724.8:c.4454T>A	ENSP00000294724.4:p.Leu1485His
ENST00000361302.7:c.4406T>A	ENSP00000354971.3:p.Leu1469His
ENST00000361522.4:c.4403T>A	ENSP00000354635.4:p.Leu1468His
ENST00000361915.7:c.4454T>A	ENSP00000355106.3:p.Leu1485His
ENST00000370161.6:c.4406T>A	ENSP00000359180.2:p.Leu1469His
ENST00000370163.7:c.4454T>A	ENSP00000359182.3:p.Leu1485His
ENST00000370165.7:c.4454T>A	ENSP00000359184.3:p.Leu1485His
NM_000028.2:c.4454T>A	NP_000019.2:p.Leu1485His
NM_000642.2:c.4454T>A	NP_000633.2:p.Leu1485His
NM_000643.2:c.4454T>A	NP_000634.2:p.Leu1485His
NM_000644.2:c.4454T>A	NP_000635.2:p.Leu1485His
NM_000645.2:c.4403T>A	NP_000636.2:p.Leu1468His
NM_000646.2:c.4406T>A	NP_000637.2:p.Leu1469His
XM_005270557.1:c.4454T>A	XP_005270614.1:p.Leu1485His
XR_947626.1:n.1318-3487A>T
XR_947627.1:n.1207-3487A>T
XR_947628.1:n.1312-3487A>T
XR_947630.1:n.1250-3487A>T
XR_947632.1:n.1136-3487A>T
XR_947633.1:n.1247-3487A>T
XR_947634.1:n.661-3487A>T
XR_947635.1:n.729-3487A>T
XM_005270557.2:c.4454T>A	XP_005270614.1:p.Leu1485His
XM_017000501.2:c.2714T>A	XP_016855990.1:p.Leu905His
NM_000642.3:c.4454T>A MANE Select	NP_000633.2:p.Leu1485His