Canonical Allele Identifier: CA341316498

Gene: AGL

Linked Data

• ClinVar Variation Id: 998098
• ClinVar RCV Id: RCV001293785
• dbSNP Id: rs777871903
• gnomAD v4: 1-99880684-T-G
• MyVariant Identifiers: chr1:g.100346240T>G (hg19) ; chr1:g.99880684T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99880684T>G , CM000663.2:g.99880684T>G	GRCh38
NC_000001.10:g.100346240T>G , CM000663.1:g.100346240T>G	GRCh37
NC_000001.9:g.100118828T>G	NCBI36
NG_012865.1:g.35601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1788T>G MANE Select	ENSP00000355106.3:p.Tyr596Ter
ENST00000637337.1:n.1999T>G
ENST00000294724.8:c.1788T>G	ENSP00000294724.4:p.Tyr596Ter
ENST00000361302.7:c.1740T>G	ENSP00000354971.3:p.Tyr580Ter
ENST00000361522.4:c.1737T>G	ENSP00000354635.4:p.Tyr579Ter
ENST00000361915.7:c.1788T>G	ENSP00000355106.3:p.Tyr596Ter
ENST00000370161.6:c.1740T>G	ENSP00000359180.2:p.Tyr580Ter
ENST00000370163.7:c.1788T>G	ENSP00000359182.3:p.Tyr596Ter
ENST00000370165.7:c.1788T>G	ENSP00000359184.3:p.Tyr596Ter
NM_000028.2:c.1788T>G	NP_000019.2:p.Tyr596Ter
NM_000642.2:c.1788T>G	NP_000633.2:p.Tyr596Ter
NM_000643.2:c.1788T>G	NP_000634.2:p.Tyr596Ter
NM_000644.2:c.1788T>G	NP_000635.2:p.Tyr596Ter
NM_000645.2:c.1737T>G	NP_000636.2:p.Tyr579Ter
NM_000646.2:c.1740T>G	NP_000637.2:p.Tyr580Ter
XM_005270557.1:c.1788T>G	XP_005270614.1:p.Tyr596Ter
XM_005270557.2:c.1788T>G	XP_005270614.1:p.Tyr596Ter
XM_017000501.2:c.48T>G	XP_016855990.1:p.Tyr16Ter
NM_000642.3:c.1788T>G MANE Select	NP_000633.2:p.Tyr596Ter