Canonical Allele Identifier: CA114769

Gene: AGL

Linked Data

• ClinVar Variation Id: 1108
• ClinVar RCV Id: RCV000001167 ; RCV000333868 ; RCV000435914
• dbSNP Id: rs267606640
• ExAC: 1:100379113 G / A
• gnomAD v2: 1-100379113-G-A
• gnomAD v3: 1-99913557-G-A
• gnomAD v4: 1-99913557-G-A
• MyVariant Identifiers: chr1:g.100379113G>A (hg19) ; chr1:g.99913557G>A (hg38)
• PubMed: PMID:12442284 ; PMID:19834502 ; PMID:23207808 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99913557G>A , CM000663.2:g.99913557G>A	GRCh38
NC_000001.10:g.100379113G>A , CM000663.1:g.100379113G>A	GRCh37
NC_000001.9:g.100151701G>A	NCBI36
NG_012865.1:g.68474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3980G>A MANE Select	ENSP00000355106.3:p.Trp1327Ter
ENST00000637337.1:n.4191G>A
ENST00000294724.8:c.3980G>A	ENSP00000294724.4:p.Trp1327Ter
ENST00000361302.7:c.3932G>A	ENSP00000354971.3:p.Trp1311Ter
ENST00000361522.4:c.3929G>A	ENSP00000354635.4:p.Trp1310Ter
ENST00000361915.7:c.3980G>A	ENSP00000355106.3:p.Trp1327Ter
ENST00000370161.6:c.3932G>A	ENSP00000359180.2:p.Trp1311Ter
ENST00000370163.7:c.3980G>A	ENSP00000359182.3:p.Trp1327Ter
ENST00000370165.7:c.3980G>A	ENSP00000359184.3:p.Trp1327Ter
NM_000028.2:c.3980G>A	NP_000019.2:p.Trp1327Ter
NM_000642.2:c.3980G>A	NP_000633.2:p.Trp1327Ter
NM_000643.2:c.3980G>A	NP_000634.2:p.Trp1327Ter
NM_000644.2:c.3980G>A	NP_000635.2:p.Trp1327Ter
NM_000645.2:c.3929G>A	NP_000636.2:p.Trp1310Ter
NM_000646.2:c.3932G>A	NP_000637.2:p.Trp1311Ter
XM_005270557.1:c.3980G>A	XP_005270614.1:p.Trp1327Ter
XR_947626.1:n.1318-340C>T
XR_947627.1:n.1207-340C>T
XR_947628.1:n.1312-340C>T
XR_947630.1:n.1250-340C>T
XR_947632.1:n.1136-340C>T
XR_947633.1:n.1247-340C>T
XR_947634.1:n.661-340C>T
XR_947635.1:n.729-340C>T
XM_005270557.2:c.3980G>A	XP_005270614.1:p.Trp1327Ter
XM_017000501.2:c.2240G>A	XP_016855990.1:p.Trp747Ter
NM_000642.3:c.3980G>A MANE Select	NP_000633.2:p.Trp1327Ter