Canonical Allele Identifier: CA369167720
Gene: IMPDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398413C>A , CM000669.2:g.128398413C>A GRCh38
NC_000007.13:g.128038467C>A , CM000669.1:g.128038467C>A GRCh37
NC_000007.12:g.127825703C>A NCBI36
NG_009194.1:g.16570G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.966+1G>T ENSP00000265385.8:n.966+1G>T
ENST00000484496.6:n.949+1G>T
ENST00000338791.11:c.1074+1G>T MANE Select ENSP00000345096.6:n.1074+1G>T
ENST00000648462.1:c.706+1G>T
ENST00000338791.10:c.1074+1G>T ENSP00000345096.6:n.1074+1G>T
ENST00000348127.10:c.966+1G>T ENSP00000265385.8:n.966+1G>T
ENST00000354269.9:c.1044+1G>T ENSP00000346219.5:n.1044+1G>T
ENST00000419067.6:c.975+1G>T ENSP00000399400.2:n.975+1G>T
ENST00000469328.5:c.839+1G>T
ENST00000470772.5:c.816+1G>T ENSP00000417296.1:n.816+1G>T
ENST00000480861.5:c.804+1G>T ENSP00000420185.1:n.804+1G>T
ENST00000484496.5:c.949+1G>T ENSP00000418742.1:n.949+1G>T
ENST00000496200.5:c.744+1G>T ENSP00000420803.1:n.744+1G>T
ENST00000626419.2:c.816+1G>T ENSP00000486056.1:n.816+1G>T
NM_000883.3:c.1074+1G>T NP_000874.2:n.1074+1G>T
NM_001102605.1:c.1044+1G>T NP_001096075.1:n.1044+1G>T
NM_001142573.1:c.819+1G>T NP_001136045.1:n.819+1G>T
NM_001142574.1:c.804+1G>T NP_001136046.1:n.804+1G>T
NM_001142575.1:c.744+1G>T NP_001136047.1:n.744+1G>T
NM_001142576.1:c.975+1G>T NP_001136048.1:n.975+1G>T
NM_001304521.1:c.867+1G>T NP_001291450.1:n.867+1G>T
NM_183243.2:c.966+1G>T NP_899066.1:n.966+1G>T
XM_005250314.1:c.843+1G>T XP_005250371.1:n.843+1G>T
XM_006715967.1:c.1074+1G>T XP_006716030.1:n.1074+1G>T
XM_006715968.1:c.1044+1G>T XP_006716031.1:n.1044+1G>T
XM_006715969.1:c.966+1G>T XP_006716032.1:n.966+1G>T
XM_006715970.2:c.867+1G>T XP_006716033.1:n.867+1G>T
XM_006715971.1:c.843+1G>T XP_006716034.1:n.843+1G>T
XM_011516156.1:c.456+1G>T XP_011514458.1:n.456+1G>T
XM_011516157.1:c.456+1G>T XP_011514459.1:n.456+1G>T
XM_017012172.1:c.843+1G>T XP_016867661.1:n.843+1G>T
XM_017012173.1:c.1044+1G>T XP_016867662.1:n.1044+1G>T
XM_024446755.1:c.1044+1G>T XP_024302523.1:n.1044+1G>T
XM_024446756.1:c.966+1G>T XP_024302524.1:n.966+1G>T
XM_024446757.1:c.867+1G>T XP_024302525.1:n.867+1G>T
XM_024446758.1:c.843+1G>T XP_024302526.1:n.843+1G>T
NM_000883.4:c.1074+1G>T MANE Select NP_000874.2:n.1074+1G>T
NM_001102605.2:c.1044+1G>T NP_001096075.1:n.1044+1G>T
NM_001142573.2:c.819+1G>T NP_001136045.1:n.819+1G>T
NM_001142574.2:c.804+1G>T NP_001136046.1:n.804+1G>T
NM_001142575.2:c.744+1G>T NP_001136047.1:n.744+1G>T
NM_001142576.2:c.975+1G>T NP_001136048.1:n.975+1G>T
NM_001304521.2:c.867+1G>T NP_001291450.1:n.867+1G>T
NM_183243.3:c.966+1G>T NP_899066.1:n.966+1G>T