Canonical Allele Identifier: CA27574044

Gene: AGL

Linked Data

• ClinVar Variation Id: 1002645
• ClinVar RCV Id: RCV001299101 ; RCV002541882
• dbSNP Id: rs140002583
• gnomAD v2: 1-100340792-A-T
• gnomAD v3: 1-99875236-A-T
• gnomAD v4: 1-99875236-A-T
• MyVariant Identifiers: chr1:g.100340792A>T (hg19) ; chr1:g.99875236A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99875236A>T , CM000663.2:g.99875236A>T	GRCh38
NC_000001.10:g.100340792A>T , CM000663.1:g.100340792A>T	GRCh37
NC_000001.9:g.100113380A>T	NCBI36
NG_012865.1:g.30153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1165A>T MANE Select	ENSP00000355106.3:p.Ile389Phe
ENST00000637337.1:n.1376A>T
ENST00000294724.8:c.1165A>T	ENSP00000294724.4:p.Ile389Phe
ENST00000361302.7:c.1117A>T	ENSP00000354971.3:p.Ile373Phe
ENST00000361522.4:c.1114A>T	ENSP00000354635.4:p.Ile372Phe
ENST00000361915.7:c.1165A>T	ENSP00000355106.3:p.Ile389Phe
ENST00000370161.6:c.1117A>T	ENSP00000359180.2:p.Ile373Phe
ENST00000370163.7:c.1165A>T	ENSP00000359182.3:p.Ile389Phe
ENST00000370165.7:c.1165A>T	ENSP00000359184.3:p.Ile389Phe
ENST00000477753.1:n.424A>T
NM_000028.2:c.1165A>T	NP_000019.2:p.Ile389Phe
NM_000642.2:c.1165A>T	NP_000633.2:p.Ile389Phe
NM_000643.2:c.1165A>T	NP_000634.2:p.Ile389Phe
NM_000644.2:c.1165A>T	NP_000635.2:p.Ile389Phe
NM_000645.2:c.1114A>T	NP_000636.2:p.Ile372Phe
NM_000646.2:c.1117A>T	NP_000637.2:p.Ile373Phe
XM_005270557.1:c.1165A>T	XP_005270614.1:p.Ile389Phe
XM_005270557.2:c.1165A>T	XP_005270614.1:p.Ile389Phe
NM_000642.3:c.1165A>T MANE Select	NP_000633.2:p.Ile389Phe