Canonical Allele Identifier: CA341337414

Gene: AGL

Linked Data

• MyVariant Identifiers: chr1:g.100376295A>C (hg19) ; chr1:g.99910739A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99910739A>C , CM000663.2:g.99910739A>C	GRCh38
NC_000001.10:g.100376295A>C , CM000663.1:g.100376295A>C	GRCh37
NC_000001.9:g.100148883A>C	NCBI36
NG_012865.1:g.65656A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3728A>C MANE Select	ENSP00000355106.3:p.Glu1243Ala
ENST00000637337.1:n.3939A>C
ENST00000294724.8:c.3728A>C	ENSP00000294724.4:p.Glu1243Ala
ENST00000361302.7:c.3680A>C	ENSP00000354971.3:p.Glu1227Ala
ENST00000361522.4:c.3677A>C	ENSP00000354635.4:p.Glu1226Ala
ENST00000361915.7:c.3728A>C	ENSP00000355106.3:p.Glu1243Ala
ENST00000370161.6:c.3680A>C	ENSP00000359180.2:p.Glu1227Ala
ENST00000370163.7:c.3728A>C	ENSP00000359182.3:p.Glu1243Ala
ENST00000370165.7:c.3728A>C	ENSP00000359184.3:p.Glu1243Ala
NM_000028.2:c.3728A>C	NP_000019.2:p.Glu1243Ala
NM_000642.2:c.3728A>C	NP_000633.2:p.Glu1243Ala
NM_000643.2:c.3728A>C	NP_000634.2:p.Glu1243Ala
NM_000644.2:c.3728A>C	NP_000635.2:p.Glu1243Ala
NM_000645.2:c.3677A>C	NP_000636.2:p.Glu1226Ala
NM_000646.2:c.3680A>C	NP_000637.2:p.Glu1227Ala
XM_005270557.1:c.3728A>C	XP_005270614.1:p.Glu1243Ala
XM_005270557.2:c.3728A>C	XP_005270614.1:p.Glu1243Ala
XM_017000501.2:c.1988A>C	XP_016855990.1:p.Glu663Ala
NM_000642.3:c.3728A>C MANE Select	NP_000633.2:p.Glu1243Ala