Canonical Allele Identifier: CA369174386
Gene: IMPDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128401039C>A , CM000669.2:g.128401039C>A GRCh38
NC_000007.13:g.128041093C>A , CM000669.1:g.128041093C>A GRCh37
NC_000007.12:g.127828329C>A NCBI36
NG_009194.1:g.13944G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.372G>T ENSP00000265385.8:p.Glu124Asp
ENST00000484496.6:n.336G>T
ENST00000338791.11:c.480G>T MANE Select ENSP00000345096.6:p.Glu160Asp
ENST00000648462.1:c.127G>T
ENST00000338791.10:c.480G>T ENSP00000345096.6:p.Glu160Asp
ENST00000348127.10:c.372G>T ENSP00000265385.8:p.Glu124Asp
ENST00000354269.9:c.450G>T ENSP00000346219.5:p.Glu150Asp
ENST00000419067.6:c.381G>T ENSP00000399400.2:p.Glu127Asp
ENST00000469328.5:c.226G>T
ENST00000470772.5:c.225G>T ENSP00000417296.1:p.Glu75Asp
ENST00000473463.1:c.*226G>T ENSP00000420469.1:n.*226G>T
ENST00000480861.5:c.225G>T ENSP00000420185.1:p.Glu75Asp
ENST00000484496.5:c.336G>T ENSP00000418742.1:p.Glu112Asp
ENST00000489263.1:c.273G>T ENSP00000418592.1:p.Glu91Asp
ENST00000491376.5:n.649G>T
ENST00000496200.5:c.225G>T ENSP00000420803.1:p.Glu75Asp
ENST00000496487.5:n.300G>T
ENST00000497868.5:c.273G>T ENSP00000419609.1:p.Glu91Asp
ENST00000626419.2:c.225G>T ENSP00000486056.1:p.Glu75Asp
NM_000883.3:c.480G>T NP_000874.2:p.Glu160Asp
NM_001102605.1:c.450G>T NP_001096075.1:p.Glu150Asp
NM_001142573.1:c.225G>T NP_001136045.1:p.Glu75Asp
NM_001142574.1:c.225G>T NP_001136046.1:p.Glu75Asp
NM_001142575.1:c.225G>T NP_001136047.1:p.Glu75Asp
NM_001142576.1:c.381G>T NP_001136048.1:p.Glu127Asp
NM_001304521.1:c.273G>T NP_001291450.1:p.Glu91Asp
NM_183243.2:c.372G>T NP_899066.1:p.Glu124Asp
XM_005250314.1:c.249G>T XP_005250371.1:p.Glu83Asp
XM_006715967.1:c.480G>T XP_006716030.1:p.Glu160Asp
XM_006715968.1:c.450G>T XP_006716031.1:p.Glu150Asp
XM_006715969.1:c.372G>T XP_006716032.1:p.Glu124Asp
XM_006715970.2:c.273G>T XP_006716033.1:p.Glu91Asp
XM_006715971.1:c.249G>T XP_006716034.1:p.Glu83Asp
XM_017012172.1:c.249G>T XP_016867661.1:p.Glu83Asp
XM_017012173.1:c.450G>T XP_016867662.1:p.Glu150Asp
XM_024446755.1:c.450G>T XP_024302523.1:p.Glu150Asp
XM_024446756.1:c.372G>T XP_024302524.1:p.Glu124Asp
XM_024446757.1:c.273G>T XP_024302525.1:p.Glu91Asp
XM_024446758.1:c.249G>T XP_024302526.1:p.Glu83Asp
NM_000883.4:c.480G>T MANE Select NP_000874.2:p.Glu160Asp
NM_001102605.2:c.450G>T NP_001096075.1:p.Glu150Asp
NM_001142573.2:c.225G>T NP_001136045.1:p.Glu75Asp
NM_001142574.2:c.225G>T NP_001136046.1:p.Glu75Asp
NM_001142575.2:c.225G>T NP_001136047.1:p.Glu75Asp
NM_001142576.2:c.381G>T NP_001136048.1:p.Glu127Asp
NM_001304521.2:c.273G>T NP_001291450.1:p.Glu91Asp
NM_183243.3:c.372G>T NP_899066.1:p.Glu124Asp