Canonical Allele Identifier: CA349373867
Gene: AGPS HGNC NCBI

Linked Data

dbSNP Id: rs1186774237

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.177521289C>T , CM000664.2:g.177521289C>T GRCh38
NC_000002.11:g.178386017C>T , CM000664.1:g.178386017C>T GRCh37
NC_000002.10:g.178094263C>T NCBI36
NG_008968.1:g.133547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264167.11:c.1718C>T MANE Select ENSP00000264167.4:p.Ala573Val
ENST00000637633.2:c.1718C>T ENSP00000490844.2:p.Ala573Val
ENST00000642466.2:c.1718C>T ENSP00000494433.2:p.Ala573Val
ENST00000679421.1:n.2947C>T
ENST00000679459.1:c.1718C>T ENSP00000506137.1:p.Ala573Val
ENST00000679478.1:c.1448C>T ENSP00000506484.1:p.Ala483Val
ENST00000679994.1:c.1448C>T ENSP00000504957.1:p.Ala483Val
ENST00000680028.1:n.3082C>T
ENST00000680155.1:c.1448C>T ENSP00000505333.1:p.Ala483Val
ENST00000680390.1:n.753C>T
ENST00000680770.1:c.1718C>T ENSP00000505536.1:p.Ala573Val
ENST00000680893.1:c.*966C>T ENSP00000505929.1:n.*966C>T
ENST00000681028.1:c.*145C>T ENSP00000506323.1:n.*145C>T
ENST00000681032.1:c.*1096C>T ENSP00000505205.1:n.*1096C>T
ENST00000681300.1:n.673C>T
ENST00000681449.1:c.1448C>T ENSP00000505342.1:p.Ala483Val
ENST00000681565.1:c.*851C>T ENSP00000505620.1:n.*851C>T
ENST00000681752.1:c.*1488C>T ENSP00000504994.1:n.*1488C>T
ENST00000681891.1:n.5353C>T
ENST00000264167.8:c.1718C>T ENSP00000264167.4:p.Ala573Val
ENST00000409888.1:c.351-40C>T ENSP00000386688.1:n.351-40C>T
NM_003659.3:c.1718C>T NP_003650.1:p.Ala573Val
XM_011512041.1:c.1448C>T XP_011510343.1:p.Ala483Val
XM_011512042.1:c.1448C>T XP_011510344.1:p.Ala483Val
XM_011512043.1:c.983C>T XP_011510345.1:p.Ala328Val
XM_011512041.2:c.1448C>T XP_011510343.1:p.Ala483Val
XM_011512043.2:c.983C>T XP_011510345.1:p.Ala328Val
XR_001739007.2:n.1626C>T
NM_003659.4:c.1718C>T MANE Select NP_003650.1:p.Ala573Val