Canonical Allele Identifier: CA341339831

Gene: AGL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99913620T>G , CM000663.2:g.99913620T>G	GRCh38
NC_000001.10:g.100379176T>G , CM000663.1:g.100379176T>G	GRCh37
NC_000001.9:g.100151764T>G	NCBI36
NG_012865.1:g.68537T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000642.3:c.4043T>G MANE Select	NP_000633.2:p.Leu1348Ter
ENST00000361915.8:c.4043T>G MANE Select	ENSP00000355106.3:p.Leu1348Ter
NM_000028.2:c.4043T>G	NP_000019.2:p.Leu1348Ter
NM_000642.2:c.4043T>G	NP_000633.2:p.Leu1348Ter
NM_000643.2:c.4043T>G	NP_000634.2:p.Leu1348Ter
NM_000644.2:c.4043T>G	NP_000635.2:p.Leu1348Ter
NM_000645.2:c.3992T>G	NP_000636.2:p.Leu1331Ter
NM_000646.2:c.3995T>G	NP_000637.2:p.Leu1332Ter
ENST00000294724.8:c.4043T>G	ENSP00000294724.4:p.Leu1348Ter
ENST00000361302.7:c.3995T>G	ENSP00000354971.3:p.Leu1332Ter
ENST00000361522.4:c.3992T>G	ENSP00000354635.4:p.Leu1331Ter
ENST00000361915.7:c.4043T>G	ENSP00000355106.3:p.Leu1348Ter
ENST00000370161.6:c.3995T>G	ENSP00000359180.2:p.Leu1332Ter
ENST00000370163.7:c.4043T>G	ENSP00000359182.3:p.Leu1348Ter
ENST00000370165.7:c.4043T>G	ENSP00000359184.3:p.Leu1348Ter
ENST00000637337.1:n.4254T>G
XM_005270557.1:c.4043T>G	XP_005270614.1:p.Leu1348Ter
XM_005270557.2:c.4043T>G	XP_005270614.1:p.Leu1348Ter
XM_017000501.2:c.2303T>G	XP_016855990.1:p.Leu768Ter
XR_947626.1:n.1318-403A>C
XR_947627.1:n.1207-403A>C
XR_947628.1:n.1312-403A>C
XR_947630.1:n.1250-403A>C
XR_947632.1:n.1136-403A>C
XR_947633.1:n.1247-403A>C
XR_947634.1:n.661-403A>C
XR_947635.1:n.729-403A>C