Canonical Allele Identifier: CA1742358244
Gene: IMPDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1797766386

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128394482dup , CM000669.2:g.128394482dup GRCh38
NC_000007.13:g.128034536dup , CM000669.1:g.128034536dup GRCh37
NC_000007.12:g.127821772dup NCBI36
NG_009194.1:g.20501dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.1560dup ENSP00000265385.8:p.Gly521ArgfsTer20
ENST00000484496.6:n.1543dup
ENST00000338791.11:c.1668dup MANE Select ENSP00000345096.6:p.Gly557ArgfsTer20
ENST00000648462.1:c.1300dup
ENST00000338791.10:c.1668dup ENSP00000345096.6:p.Gly557ArgfsTer20
ENST00000348127.10:c.1560dup ENSP00000265385.8:p.Gly521ArgfsTer20
ENST00000354269.9:c.1638dup ENSP00000346219.5:p.Gly547ArgfsTer20
ENST00000419067.6:c.1569dup ENSP00000399400.2:p.Gly524ArgfsTer20
ENST00000460045.1:n.558dup
ENST00000469328.5:c.1433dup
ENST00000470772.5:c.1410dup ENSP00000417296.1:p.Gly471ArgfsTer20
ENST00000480861.5:c.1398dup ENSP00000420185.1:p.Gly467ArgfsTer20
ENST00000484496.5:c.1543dup ENSP00000418742.1:n.1543dup
ENST00000496200.5:c.1338dup ENSP00000420803.1:p.Gly447ArgfsTer20
ENST00000626419.2:c.1410dup ENSP00000486056.1:p.Gly471ArgfsTer20
NM_000883.3:c.1668dup NP_000874.2:p.Gly557ArgfsTer20
NM_001102605.1:c.1638dup NP_001096075.1:p.Gly547ArgfsTer20
NM_001142573.1:c.1413dup NP_001136045.1:p.Gly472ArgfsTer20
NM_001142574.1:c.1398dup NP_001136046.1:p.Gly467ArgfsTer20
NM_001142575.1:c.1338dup NP_001136047.1:p.Gly447ArgfsTer20
NM_001142576.1:c.1569dup NP_001136048.1:p.Gly524ArgfsTer20
NM_001304521.1:c.1461dup NP_001291450.1:p.Gly488ArgfsTer20
NM_183243.2:c.1560dup NP_899066.1:p.Gly521ArgfsTer20
XM_005250314.1:c.1437dup XP_005250371.1:p.Gly480ArgfsTer20
XM_006715967.1:c.1668dup XP_006716030.1:p.Gly557ArgfsTer20
XM_006715968.1:c.1638dup XP_006716031.1:p.Gly547ArgfsTer20
XM_006715969.1:c.1560dup XP_006716032.1:p.Gly521ArgfsTer20
XM_006715970.2:c.1461dup XP_006716033.1:p.Gly488ArgfsTer20
XM_006715971.1:c.1437dup XP_006716034.1:p.Gly480ArgfsTer20
XM_011516156.1:c.1050dup XP_011514458.1:p.Gly351ArgfsTer20
XM_011516157.1:c.1050dup XP_011514459.1:p.Gly351ArgfsTer20
XM_017012172.1:c.1437dup XP_016867661.1:p.Gly480ArgfsTer20
XM_024446755.1:c.1638dup XP_024302523.1:p.Gly547ArgfsTer20
XM_024446756.1:c.1560dup XP_024302524.1:p.Gly521ArgfsTer20
XM_024446757.1:c.1461dup XP_024302525.1:p.Gly488ArgfsTer20
XM_024446758.1:c.1437dup XP_024302526.1:p.Gly480ArgfsTer20
NM_000883.4:c.1668dup MANE Select NP_000874.2:p.Gly557ArgfsTer20
NM_001102605.2:c.1638dup NP_001096075.1:p.Gly547ArgfsTer20
NM_001142573.2:c.1413dup NP_001136045.1:p.Gly472ArgfsTer20
NM_001142574.2:c.1398dup NP_001136046.1:p.Gly467ArgfsTer20
NM_001142575.2:c.1338dup NP_001136047.1:p.Gly447ArgfsTer20
NM_001142576.2:c.1569dup NP_001136048.1:p.Gly524ArgfsTer20
NM_001304521.2:c.1461dup NP_001291450.1:p.Gly488ArgfsTer20
NM_183243.3:c.1560dup NP_899066.1:p.Gly521ArgfsTer20