Canonical Allele Identifier: CA419096030

Gene: AGL

Linked Data

• ClinVar Variation Id: 2420370
• ClinVar RCV Id: RCV003118895
• dbSNP Id: rs1250165946
• gnomAD v2: 1-100387132-C-T
• gnomAD v3: 1-99921576-C-T
• gnomAD v4: 1-99921576-C-T
• MyVariant Identifiers: chr1:g.100387132C>T (hg19) ; chr1:g.99921576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921576C>T , CM000663.2:g.99921576C>T	GRCh38
NC_000001.10:g.100387132C>T , CM000663.1:g.100387132C>T	GRCh37
NC_000001.9:g.100159720C>T	NCBI36
NG_012865.1:g.76493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4524C>T MANE Select	ENSP00000355106.3:p.Ala1508=
ENST00000637337.1:n.4735C>T
ENST00000294724.8:c.4524C>T	ENSP00000294724.4:p.Ala1508=
ENST00000361302.7:c.4476C>T	ENSP00000354971.3:p.Ala1492=
ENST00000361522.4:c.4473C>T	ENSP00000354635.4:p.Ala1491=
ENST00000361915.7:c.4524C>T	ENSP00000355106.3:p.Ala1508=
ENST00000370161.6:c.4476C>T	ENSP00000359180.2:p.Ala1492=
ENST00000370163.7:c.4524C>T	ENSP00000359182.3:p.Ala1508=
ENST00000370165.7:c.4524C>T	ENSP00000359184.3:p.Ala1508=
NM_000028.2:c.4524C>T	NP_000019.2:p.Ala1508=
NM_000642.2:c.4524C>T	NP_000633.2:p.Ala1508=
NM_000643.2:c.4524C>T	NP_000634.2:p.Ala1508=
NM_000644.2:c.4524C>T	NP_000635.2:p.Ala1508=
NM_000645.2:c.4473C>T	NP_000636.2:p.Ala1491=
NM_000646.2:c.4476C>T	NP_000637.2:p.Ala1492=
XM_005270557.1:c.4524C>T	XP_005270614.1:p.Ala1508=
XR_947626.1:n.1317+2662G>A
XR_947627.1:n.1206+2662G>A
XR_947628.1:n.1311+2662G>A
XR_947630.1:n.1249+2662G>A
XR_947632.1:n.1135+2662G>A
XR_947633.1:n.1246+2662G>A
XR_947634.1:n.660+2662G>A
XR_947635.1:n.728+2662G>A
XM_005270557.2:c.4524C>T	XP_005270614.1:p.Ala1508=
XM_017000501.2:c.2784C>T	XP_016855990.1:p.Ala928=
NM_000642.3:c.4524C>T MANE Select	NP_000633.2:p.Ala1508=