Canonical Allele Identifier: CA419095958

Gene: AGL

Linked Data

• gnomAD v4: 1-99921537-C-T
• MyVariant Identifiers: chr1:g.100387093C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921537C>T , CM000663.2:g.99921537C>T	GRCh38
NC_000001.10:g.100387093C>T , CM000663.1:g.100387093C>T	GRCh37
NC_000001.9:g.100159681C>T	NCBI36
NG_012865.1:g.76454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4485C>T MANE Select	ENSP00000355106.3:p.Ser1495=
ENST00000637337.1:n.4696C>T
ENST00000294724.8:c.4485C>T	ENSP00000294724.4:p.Ser1495=
ENST00000361302.7:c.4437C>T	ENSP00000354971.3:p.Ser1479=
ENST00000361522.4:c.4434C>T	ENSP00000354635.4:p.Ser1478=
ENST00000361915.7:c.4485C>T	ENSP00000355106.3:p.Ser1495=
ENST00000370161.6:c.4437C>T	ENSP00000359180.2:p.Ser1479=
ENST00000370163.7:c.4485C>T	ENSP00000359182.3:p.Ser1495=
ENST00000370165.7:c.4485C>T	ENSP00000359184.3:p.Ser1495=
NM_000028.2:c.4485C>T	NP_000019.2:p.Ser1495=
NM_000642.2:c.4485C>T	NP_000633.2:p.Ser1495=
NM_000643.2:c.4485C>T	NP_000634.2:p.Ser1495=
NM_000644.2:c.4485C>T	NP_000635.2:p.Ser1495=
NM_000645.2:c.4434C>T	NP_000636.2:p.Ser1478=
NM_000646.2:c.4437C>T	NP_000637.2:p.Ser1479=
XM_005270557.1:c.4485C>T	XP_005270614.1:p.Ser1495=
XR_947626.1:n.1317+2701G>A
XR_947627.1:n.1206+2701G>A
XR_947628.1:n.1311+2701G>A
XR_947630.1:n.1249+2701G>A
XR_947632.1:n.1135+2701G>A
XR_947633.1:n.1246+2701G>A
XR_947634.1:n.660+2701G>A
XR_947635.1:n.728+2701G>A
XM_005270557.2:c.4485C>T	XP_005270614.1:p.Ser1495=
XM_017000501.2:c.2745C>T	XP_016855990.1:p.Ser915=
NM_000642.3:c.4485C>T MANE Select	NP_000633.2:p.Ser1495=