Canonical Allele Identifier: CA341334458

Gene: AGL

Linked Data

• MyVariant Identifiers: chr1:g.100368270C>T (hg19) ; chr1:g.99902714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99902714C>T , CM000663.2:g.99902714C>T	GRCh38
NC_000001.10:g.100368270C>T , CM000663.1:g.100368270C>T	GRCh37
NC_000001.9:g.100140858C>T	NCBI36
NG_012865.1:g.57631C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.3620C>T MANE Select	ENSP00000355106.3:p.Ala1207Val
ENST00000637337.1:n.3831C>T
ENST00000294724.8:c.3620C>T	ENSP00000294724.4:p.Ala1207Val
ENST00000361302.7:c.3572C>T	ENSP00000354971.3:p.Ala1191Val
ENST00000361522.4:c.3569C>T	ENSP00000354635.4:p.Ala1190Val
ENST00000361915.7:c.3620C>T	ENSP00000355106.3:p.Ala1207Val
ENST00000370161.6:c.3572C>T	ENSP00000359180.2:p.Ala1191Val
ENST00000370163.7:c.3620C>T	ENSP00000359182.3:p.Ala1207Val
ENST00000370165.7:c.3620C>T	ENSP00000359184.3:p.Ala1207Val
NM_000028.2:c.3620C>T	NP_000019.2:p.Ala1207Val
NM_000642.2:c.3620C>T	NP_000633.2:p.Ala1207Val
NM_000643.2:c.3620C>T	NP_000634.2:p.Ala1207Val
NM_000644.2:c.3620C>T	NP_000635.2:p.Ala1207Val
NM_000645.2:c.3569C>T	NP_000636.2:p.Ala1190Val
NM_000646.2:c.3572C>T	NP_000637.2:p.Ala1191Val
XM_005270557.1:c.3620C>T	XP_005270614.1:p.Ala1207Val
XM_005270557.2:c.3620C>T	XP_005270614.1:p.Ala1207Val
XM_017000501.2:c.1880C>T	XP_016855990.1:p.Ala627Val
NM_000642.3:c.3620C>T MANE Select	NP_000633.2:p.Ala1207Val