Canonical Allele Identifier: CA457528621
Gene: IMPDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128041138C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128401084C>A , CM000669.2:g.128401084C>A GRCh38
NC_000007.13:g.128041138C>A , CM000669.1:g.128041138C>A GRCh37
NC_000007.12:g.127828374C>A NCBI36
NG_009194.1:g.13899G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.327G>T ENSP00000265385.8:p.Thr109=
ENST00000484496.6:n.291G>T
ENST00000338791.11:c.435G>T MANE Select ENSP00000345096.6:p.Thr145=
ENST00000648462.1:c.82G>T
ENST00000338791.10:c.435G>T ENSP00000345096.6:p.Thr145=
ENST00000348127.10:c.327G>T ENSP00000265385.8:p.Thr109=
ENST00000354269.9:c.405G>T ENSP00000346219.5:p.Thr135=
ENST00000419067.6:c.336G>T ENSP00000399400.2:p.Thr112=
ENST00000469328.5:c.181G>T
ENST00000470772.5:c.180G>T ENSP00000417296.1:p.Thr60=
ENST00000473463.1:c.*181G>T ENSP00000420469.1:n.*181G>T
ENST00000480861.5:c.180G>T ENSP00000420185.1:p.Thr60=
ENST00000484496.5:c.291G>T ENSP00000418742.1:p.Thr97=
ENST00000489263.1:c.228G>T ENSP00000418592.1:p.Thr76=
ENST00000491376.5:n.604G>T
ENST00000496200.5:c.180G>T ENSP00000420803.1:p.Thr60=
ENST00000496487.5:n.255G>T
ENST00000497868.5:c.228G>T ENSP00000419609.1:p.Thr76=
ENST00000626419.2:c.180G>T ENSP00000486056.1:p.Thr60=
NM_000883.3:c.435G>T NP_000874.2:p.Thr145=
NM_001102605.1:c.405G>T NP_001096075.1:p.Thr135=
NM_001142573.1:c.180G>T NP_001136045.1:p.Thr60=
NM_001142574.1:c.180G>T NP_001136046.1:p.Thr60=
NM_001142575.1:c.180G>T NP_001136047.1:p.Thr60=
NM_001142576.1:c.336G>T NP_001136048.1:p.Thr112=
NM_001304521.1:c.228G>T NP_001291450.1:p.Thr76=
NM_183243.2:c.327G>T NP_899066.1:p.Thr109=
XM_005250314.1:c.204G>T XP_005250371.1:p.Thr68=
XM_006715967.1:c.435G>T XP_006716030.1:p.Thr145=
XM_006715968.1:c.405G>T XP_006716031.1:p.Thr135=
XM_006715969.1:c.327G>T XP_006716032.1:p.Thr109=
XM_006715970.2:c.228G>T XP_006716033.1:p.Thr76=
XM_006715971.1:c.204G>T XP_006716034.1:p.Thr68=
XM_017012172.1:c.204G>T XP_016867661.1:p.Thr68=
XM_017012173.1:c.405G>T XP_016867662.1:p.Thr135=
XM_024446755.1:c.405G>T XP_024302523.1:p.Thr135=
XM_024446756.1:c.327G>T XP_024302524.1:p.Thr109=
XM_024446757.1:c.228G>T XP_024302525.1:p.Thr76=
XM_024446758.1:c.204G>T XP_024302526.1:p.Thr68=
NM_000883.4:c.435G>T MANE Select NP_000874.2:p.Thr145=
NM_001102605.2:c.405G>T NP_001096075.1:p.Thr135=
NM_001142573.2:c.180G>T NP_001136045.1:p.Thr60=
NM_001142574.2:c.180G>T NP_001136046.1:p.Thr60=
NM_001142575.2:c.180G>T NP_001136047.1:p.Thr60=
NM_001142576.2:c.336G>T NP_001136048.1:p.Thr112=
NM_001304521.2:c.228G>T NP_001291450.1:p.Thr76=
NM_183243.3:c.327G>T NP_899066.1:p.Thr109=