Canonical Allele Identifier: CA341343867

Gene: AGL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921614C>T , CM000663.2:g.99921614C>T	GRCh38
NC_000001.10:g.100387170C>T , CM000663.1:g.100387170C>T	GRCh37
NC_000001.9:g.100159758C>T	NCBI36
NG_012865.1:g.76531C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000642.3:c.4562C>T MANE Select	NP_000633.2:p.Ser1521Leu
ENST00000361915.8:c.4562C>T MANE Select	ENSP00000355106.3:p.Ser1521Leu
NM_000028.2:c.4562C>T	NP_000019.2:p.Ser1521Leu
NM_000642.2:c.4562C>T	NP_000633.2:p.Ser1521Leu
NM_000643.2:c.4562C>T	NP_000634.2:p.Ser1521Leu
NM_000644.2:c.4562C>T	NP_000635.2:p.Ser1521Leu
NM_000645.2:c.4511C>T	NP_000636.2:p.Ser1504Leu
NM_000646.2:c.4514C>T	NP_000637.2:p.Ser1505Leu
ENST00000294724.8:c.4562C>T	ENSP00000294724.4:p.Ser1521Leu
ENST00000361302.7:c.4514C>T	ENSP00000354971.3:p.Ser1505Leu
ENST00000361522.4:c.4511C>T	ENSP00000354635.4:p.Ser1504Leu
ENST00000361915.7:c.4562C>T	ENSP00000355106.3:p.Ser1521Leu
ENST00000370161.6:c.4514C>T	ENSP00000359180.2:p.Ser1505Leu
ENST00000370163.7:c.4562C>T	ENSP00000359182.3:p.Ser1521Leu
ENST00000370165.7:c.4562C>T	ENSP00000359184.3:p.Ser1521Leu
ENST00000637337.1:n.4773C>T
XM_005270557.1:c.4562C>T	XP_005270614.1:p.Ser1521Leu
XM_005270557.2:c.4562C>T	XP_005270614.1:p.Ser1521Leu
XM_017000501.2:c.2822C>T	XP_016855990.1:p.Ser941Leu
XR_947626.1:n.1317+2624G>A
XR_947627.1:n.1206+2624G>A
XR_947628.1:n.1311+2624G>A
XR_947630.1:n.1249+2624G>A
XR_947632.1:n.1135+2624G>A
XR_947633.1:n.1246+2624G>A
XR_947634.1:n.660+2624G>A
XR_947635.1:n.728+2624G>A