Canonical Allele Identifier: CA341326270

Gene: AGL

Linked Data

• gnomAD v4: 1-99891712-T-G
• MyVariant Identifiers: chr1:g.100357268T>G (hg19) ; chr1:g.99891712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891712T>G , CM000663.2:g.99891712T>G	GRCh38
NC_000001.10:g.100357268T>G , CM000663.1:g.100357268T>G	GRCh37
NC_000001.9:g.100129856T>G	NCBI36
NG_012865.1:g.46629T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3056T>G MANE Select	ENSP00000355106.3:p.Leu1019Arg
ENST00000637337.1:n.3267T>G
ENST00000294724.8:c.3056T>G	ENSP00000294724.4:p.Leu1019Arg
ENST00000361302.7:c.3008T>G	ENSP00000354971.3:p.Leu1003Arg
ENST00000361522.4:c.3005T>G	ENSP00000354635.4:p.Leu1002Arg
ENST00000361915.7:c.3056T>G	ENSP00000355106.3:p.Leu1019Arg
ENST00000370161.6:c.3008T>G	ENSP00000359180.2:p.Leu1003Arg
ENST00000370163.7:c.3056T>G	ENSP00000359182.3:p.Leu1019Arg
ENST00000370165.7:c.3056T>G	ENSP00000359184.3:p.Leu1019Arg
NM_000028.2:c.3056T>G	NP_000019.2:p.Leu1019Arg
NM_000642.2:c.3056T>G	NP_000633.2:p.Leu1019Arg
NM_000643.2:c.3056T>G	NP_000634.2:p.Leu1019Arg
NM_000644.2:c.3056T>G	NP_000635.2:p.Leu1019Arg
NM_000645.2:c.3005T>G	NP_000636.2:p.Leu1002Arg
NM_000646.2:c.3008T>G	NP_000637.2:p.Leu1003Arg
XM_005270557.1:c.3056T>G	XP_005270614.1:p.Leu1019Arg
XM_005270557.2:c.3056T>G	XP_005270614.1:p.Leu1019Arg
XM_017000501.2:c.1316T>G	XP_016855990.1:p.Leu439Arg
NM_000642.3:c.3056T>G MANE Select	NP_000633.2:p.Leu1019Arg