Canonical Allele Identifier: CA129916
Gene: AGPS HGNC NCBI

Linked Data

ClinVar Variation Id: 35469
ClinVar RCV Id: RCV000029144
dbSNP Id: rs387907214

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177521274C>T , CM000664.2:g.177521274C>T GRCh38
NC_000002.11:g.178386002C>T , CM000664.1:g.178386002C>T GRCh37
NC_000002.10:g.178094248C>T NCBI36
NG_008968.1:g.133532C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264167.11:c.1703C>T MANE Select ENSP00000264167.4:p.Thr568Met
ENST00000637633.2:c.1703C>T ENSP00000490844.2:p.Thr568Met
ENST00000642466.2:c.1703C>T ENSP00000494433.2:p.Thr568Met
ENST00000679421.1:n.2932C>T
ENST00000679459.1:c.1703C>T ENSP00000506137.1:p.Thr568Met
ENST00000679478.1:c.1433C>T ENSP00000506484.1:p.Thr478Met
ENST00000679994.1:c.1433C>T ENSP00000504957.1:p.Thr478Met
ENST00000680028.1:n.3067C>T
ENST00000680155.1:c.1433C>T ENSP00000505333.1:p.Thr478Met
ENST00000680390.1:n.738C>T
ENST00000680770.1:c.1703C>T ENSP00000505536.1:p.Thr568Met
ENST00000680893.1:c.*951C>T ENSP00000505929.1:p.=
ENST00000681028.1:c.*130C>T ENSP00000506323.1:p.=
ENST00000681032.1:c.*1081C>T ENSP00000505205.1:p.=
ENST00000681300.1:n.658C>T
ENST00000681449.1:c.1433C>T ENSP00000505342.1:p.Thr478Met
ENST00000681565.1:c.*836C>T ENSP00000505620.1:p.=
ENST00000681752.1:c.*1473C>T ENSP00000504994.1:p.=
ENST00000681891.1:n.5338C>T
ENST00000264167.8:c.1703C>T ENSP00000264167.4:p.Thr568Met
ENST00000409888.1:c.351-55C>T ENSP00000386688.1:p.=
NM_003659.3:c.1703C>T NP_003650.1:p.Thr568Met
XM_011512041.1:c.1433C>T XP_011510343.1:p.Thr478Met
XM_011512042.1:c.1433C>T XP_011510344.1:p.Thr478Met
XM_011512043.1:c.968C>T XP_011510345.1:p.Thr323Met
XM_011512041.2:c.1433C>T XP_011510343.1:p.Thr478Met
XM_011512043.2:c.968C>T XP_011510345.1:p.Thr323Met
XR_001739007.2:n.1611C>T
NM_003659.4:c.1703C>T MANE Select NP_003650.1:p.Thr568Met