Canonical Allele Identifier: CA341344040

Gene: AGL

Linked Data

• ClinVar Variation Id: 2049431
• ClinVar RCV Id: RCV002937085
• MyVariant Identifiers: chr1:g.100387194T>G (hg19) ; chr1:g.99921638T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921638T>G , CM000663.2:g.99921638T>G	GRCh38
NC_000001.10:g.100387194T>G , CM000663.1:g.100387194T>G	GRCh37
NC_000001.9:g.100159782T>G	NCBI36
NG_012865.1:g.76555T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4586T>G MANE Select	ENSP00000355106.3:p.Leu1529Arg
ENST00000637337.1:n.4797T>G
ENST00000294724.8:c.4586T>G	ENSP00000294724.4:p.Leu1529Arg
ENST00000361302.7:c.4538T>G	ENSP00000354971.3:p.Leu1513Arg
ENST00000361522.4:c.4535T>G	ENSP00000354635.4:p.Leu1512Arg
ENST00000361915.7:c.4586T>G	ENSP00000355106.3:p.Leu1529Arg
ENST00000370161.6:c.4538T>G	ENSP00000359180.2:p.Leu1513Arg
ENST00000370163.7:c.4586T>G	ENSP00000359182.3:p.Leu1529Arg
ENST00000370165.7:c.4586T>G	ENSP00000359184.3:p.Leu1529Arg
NM_000028.2:c.4586T>G	NP_000019.2:p.Leu1529Arg
NM_000642.2:c.4586T>G	NP_000633.2:p.Leu1529Arg
NM_000643.2:c.4586T>G	NP_000634.2:p.Leu1529Arg
NM_000644.2:c.4586T>G	NP_000635.2:p.Leu1529Arg
NM_000645.2:c.4535T>G	NP_000636.2:p.Leu1512Arg
NM_000646.2:c.4538T>G	NP_000637.2:p.Leu1513Arg
XM_005270557.1:c.4586T>G	XP_005270614.1:p.Leu1529Arg
XR_947626.1:n.1317+2600A>C
XR_947627.1:n.1206+2600A>C
XR_947628.1:n.1311+2600A>C
XR_947630.1:n.1249+2600A>C
XR_947632.1:n.1135+2600A>C
XR_947633.1:n.1246+2600A>C
XR_947634.1:n.660+2600A>C
XR_947635.1:n.728+2600A>C
XM_005270557.2:c.4586T>G	XP_005270614.1:p.Leu1529Arg
XM_017000501.2:c.2846T>G	XP_016855990.1:p.Leu949Arg
NM_000642.3:c.4586T>G MANE Select	NP_000633.2:p.Leu1529Arg