Canonical Allele Identifier: CA967468

Gene: AGL

Linked Data

• ClinVar Variation Id: 2881152
• ClinVar RCV Id: RCV003633273
• dbSNP Id: rs759514411
• ExAC: 1:100387120 C / G
• gnomAD v2: 1-100387120-C-G
• gnomAD v3: 1-99921564-C-G
• gnomAD v4: 1-99921564-C-G
• MyVariant Identifiers: chr1:g.100387120C>G (hg19) ; chr1:g.99921564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921564C>G , CM000663.2:g.99921564C>G	GRCh38
NC_000001.10:g.100387120C>G , CM000663.1:g.100387120C>G	GRCh37
NC_000001.9:g.100159708C>G	NCBI36
NG_012865.1:g.76481C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4512C>G MANE Select	ENSP00000355106.3:p.Thr1504=
ENST00000637337.1:n.4723C>G
ENST00000294724.8:c.4512C>G	ENSP00000294724.4:p.Thr1504=
ENST00000361302.7:c.4464C>G	ENSP00000354971.3:p.Thr1488=
ENST00000361522.4:c.4461C>G	ENSP00000354635.4:p.Thr1487=
ENST00000361915.7:c.4512C>G	ENSP00000355106.3:p.Thr1504=
ENST00000370161.6:c.4464C>G	ENSP00000359180.2:p.Thr1488=
ENST00000370163.7:c.4512C>G	ENSP00000359182.3:p.Thr1504=
ENST00000370165.7:c.4512C>G	ENSP00000359184.3:p.Thr1504=
NM_000028.2:c.4512C>G	NP_000019.2:p.Thr1504=
NM_000642.2:c.4512C>G	NP_000633.2:p.Thr1504=
NM_000643.2:c.4512C>G	NP_000634.2:p.Thr1504=
NM_000644.2:c.4512C>G	NP_000635.2:p.Thr1504=
NM_000645.2:c.4461C>G	NP_000636.2:p.Thr1487=
NM_000646.2:c.4464C>G	NP_000637.2:p.Thr1488=
XM_005270557.1:c.4512C>G	XP_005270614.1:p.Thr1504=
XR_947626.1:n.1317+2674G>C
XR_947627.1:n.1206+2674G>C
XR_947628.1:n.1311+2674G>C
XR_947630.1:n.1249+2674G>C
XR_947632.1:n.1135+2674G>C
XR_947633.1:n.1246+2674G>C
XR_947634.1:n.660+2674G>C
XR_947635.1:n.728+2674G>C
XM_005270557.2:c.4512C>G	XP_005270614.1:p.Thr1504=
XM_017000501.2:c.2772C>G	XP_016855990.1:p.Thr924=
NM_000642.3:c.4512C>G MANE Select	NP_000633.2:p.Thr1504=