Canonical Allele Identifier: CA966683

Gene: AGL

Linked Data

• ClinVar Variation Id: 934658
• ClinVar RCV Id: RCV001203094
• dbSNP Id: rs780518752
• ExAC: 1:100346899 T / G
• gnomAD v2: 1-100346899-T-G
• gnomAD v3: 1-99881343-T-G
• gnomAD v4: 1-99881343-T-G
• MyVariant Identifiers: chr1:g.100346899T>G (hg19) ; chr1:g.99881343T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881343T>G , CM000663.2:g.99881343T>G	GRCh38
NC_000001.10:g.100346899T>G , CM000663.1:g.100346899T>G	GRCh37
NC_000001.9:g.100119487T>G	NCBI36
NG_012865.1:g.36260T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.2053T>G MANE Select	ENSP00000355106.3:p.Leu685Val
ENST00000637337.1:n.2264T>G
ENST00000294724.8:c.2053T>G	ENSP00000294724.4:p.Leu685Val
ENST00000361302.7:c.2005T>G	ENSP00000354971.3:p.Leu669Val
ENST00000361522.4:c.2002T>G	ENSP00000354635.4:p.Leu668Val
ENST00000361915.7:c.2053T>G	ENSP00000355106.3:p.Leu685Val
ENST00000370161.6:c.2005T>G	ENSP00000359180.2:p.Leu669Val
ENST00000370163.7:c.2053T>G	ENSP00000359182.3:p.Leu685Val
ENST00000370165.7:c.2053T>G	ENSP00000359184.3:p.Leu685Val
NM_000028.2:c.2053T>G	NP_000019.2:p.Leu685Val
NM_000642.2:c.2053T>G	NP_000633.2:p.Leu685Val
NM_000643.2:c.2053T>G	NP_000634.2:p.Leu685Val
NM_000644.2:c.2053T>G	NP_000635.2:p.Leu685Val
NM_000645.2:c.2002T>G	NP_000636.2:p.Leu668Val
NM_000646.2:c.2005T>G	NP_000637.2:p.Leu669Val
XM_005270557.1:c.2053T>G	XP_005270614.1:p.Leu685Val
XM_005270557.2:c.2053T>G	XP_005270614.1:p.Leu685Val
XM_017000501.2:c.313T>G	XP_016855990.1:p.Leu105Val
NM_000642.3:c.2053T>G MANE Select	NP_000633.2:p.Leu685Val