Canonical Allele Identifier: CA369169232
Gene: IMPDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398541C>A , CM000669.2:g.128398541C>A GRCh38
NC_000007.13:g.128038595C>A , CM000669.1:g.128038595C>A GRCh37
NC_000007.12:g.127825831C>A NCBI36
NG_009194.1:g.16442G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.839G>T ENSP00000265385.8:p.Arg280Leu
ENST00000484496.6:n.822G>T
ENST00000338791.11:c.947G>T MANE Select ENSP00000345096.6:p.Arg316Leu
ENST00000648462.1:c.579G>T
ENST00000338791.10:c.947G>T ENSP00000345096.6:p.Arg316Leu
ENST00000348127.10:c.839G>T ENSP00000265385.8:p.Arg280Leu
ENST00000354269.9:c.917G>T ENSP00000346219.5:p.Arg306Leu
ENST00000419067.6:c.848G>T ENSP00000399400.2:p.Arg283Leu
ENST00000468842.1:n.536G>T
ENST00000469328.5:c.712G>T
ENST00000470772.5:c.689G>T ENSP00000417296.1:p.Arg230Leu
ENST00000480861.5:c.677G>T ENSP00000420185.1:p.Arg226Leu
ENST00000484496.5:c.822G>T ENSP00000418742.1:n.822G>T
ENST00000496200.5:c.617G>T ENSP00000420803.1:p.Arg206Leu
ENST00000497868.5:c.740G>T ENSP00000419609.1:p.Arg247Leu
ENST00000626419.2:c.689G>T ENSP00000486056.1:p.Arg230Leu
NM_000883.3:c.947G>T NP_000874.2:p.Arg316Leu
NM_001102605.1:c.917G>T NP_001096075.1:p.Arg306Leu
NM_001142573.1:c.692G>T NP_001136045.1:p.Arg231Leu
NM_001142574.1:c.677G>T NP_001136046.1:p.Arg226Leu
NM_001142575.1:c.617G>T NP_001136047.1:p.Arg206Leu
NM_001142576.1:c.848G>T NP_001136048.1:p.Arg283Leu
NM_001304521.1:c.740G>T NP_001291450.1:p.Arg247Leu
NM_183243.2:c.839G>T NP_899066.1:p.Arg280Leu
XM_005250314.1:c.716G>T XP_005250371.1:p.Arg239Leu
XM_006715967.1:c.947G>T XP_006716030.1:p.Arg316Leu
XM_006715968.1:c.917G>T XP_006716031.1:p.Arg306Leu
XM_006715969.1:c.839G>T XP_006716032.1:p.Arg280Leu
XM_006715970.2:c.740G>T XP_006716033.1:p.Arg247Leu
XM_006715971.1:c.716G>T XP_006716034.1:p.Arg239Leu
XM_011516156.1:c.329G>T XP_011514458.1:p.Arg110Leu
XM_011516157.1:c.329G>T XP_011514459.1:p.Arg110Leu
XM_017012172.1:c.716G>T XP_016867661.1:p.Arg239Leu
XM_017012173.1:c.917G>T XP_016867662.1:p.Arg306Leu
XM_024446755.1:c.917G>T XP_024302523.1:p.Arg306Leu
XM_024446756.1:c.839G>T XP_024302524.1:p.Arg280Leu
XM_024446757.1:c.740G>T XP_024302525.1:p.Arg247Leu
XM_024446758.1:c.716G>T XP_024302526.1:p.Arg239Leu
NM_000883.4:c.947G>T MANE Select NP_000874.2:p.Arg316Leu
NM_001102605.2:c.917G>T NP_001096075.1:p.Arg306Leu
NM_001142573.2:c.692G>T NP_001136045.1:p.Arg231Leu
NM_001142574.2:c.677G>T NP_001136046.1:p.Arg226Leu
NM_001142575.2:c.617G>T NP_001136047.1:p.Arg206Leu
NM_001142576.2:c.848G>T NP_001136048.1:p.Arg283Leu
NM_001304521.2:c.740G>T NP_001291450.1:p.Arg247Leu
NM_183243.3:c.839G>T NP_899066.1:p.Arg280Leu