Canonical Allele Identifier: CA341343862

Gene: AGL

Linked Data

• ClinVar Variation Id: 1408823
• ClinVar RCV Id: RCV001930233
• dbSNP Id: rs1406341617
• gnomAD v2: 1-100387169-T-C
• gnomAD v4: 1-99921613-T-C
• MyVariant Identifiers: chr1:g.100387169T>C (hg19) ; chr1:g.99921613T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921613T>C , CM000663.2:g.99921613T>C	GRCh38
NC_000001.10:g.100387169T>C , CM000663.1:g.100387169T>C	GRCh37
NC_000001.9:g.100159757T>C	NCBI36
NG_012865.1:g.76530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4561T>C MANE Select	ENSP00000355106.3:p.Ser1521Pro
ENST00000637337.1:n.4772T>C
ENST00000294724.8:c.4561T>C	ENSP00000294724.4:p.Ser1521Pro
ENST00000361302.7:c.4513T>C	ENSP00000354971.3:p.Ser1505Pro
ENST00000361522.4:c.4510T>C	ENSP00000354635.4:p.Ser1504Pro
ENST00000361915.7:c.4561T>C	ENSP00000355106.3:p.Ser1521Pro
ENST00000370161.6:c.4513T>C	ENSP00000359180.2:p.Ser1505Pro
ENST00000370163.7:c.4561T>C	ENSP00000359182.3:p.Ser1521Pro
ENST00000370165.7:c.4561T>C	ENSP00000359184.3:p.Ser1521Pro
NM_000028.2:c.4561T>C	NP_000019.2:p.Ser1521Pro
NM_000642.2:c.4561T>C	NP_000633.2:p.Ser1521Pro
NM_000643.2:c.4561T>C	NP_000634.2:p.Ser1521Pro
NM_000644.2:c.4561T>C	NP_000635.2:p.Ser1521Pro
NM_000645.2:c.4510T>C	NP_000636.2:p.Ser1504Pro
NM_000646.2:c.4513T>C	NP_000637.2:p.Ser1505Pro
XM_005270557.1:c.4561T>C	XP_005270614.1:p.Ser1521Pro
XR_947626.1:n.1317+2625A>G
XR_947627.1:n.1206+2625A>G
XR_947628.1:n.1311+2625A>G
XR_947630.1:n.1249+2625A>G
XR_947632.1:n.1135+2625A>G
XR_947633.1:n.1246+2625A>G
XR_947634.1:n.660+2625A>G
XR_947635.1:n.728+2625A>G
XM_005270557.2:c.4561T>C	XP_005270614.1:p.Ser1521Pro
XM_017000501.2:c.2821T>C	XP_016855990.1:p.Ser941Pro
NM_000642.3:c.4561T>C MANE Select	NP_000633.2:p.Ser1521Pro