Canonical Allele Identifier: CA369174369
Gene: IMPDH1 HGNC NCBI

Linked Data

COSMIC: COSM744647

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128401035C>A , CM000669.2:g.128401035C>A GRCh38
NC_000007.13:g.128041089C>A , CM000669.1:g.128041089C>A GRCh37
NC_000007.12:g.127828325C>A NCBI36
NG_009194.1:g.13948G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.376G>T ENSP00000265385.8:p.Asp126Tyr
ENST00000484496.6:n.340G>T
ENST00000338791.11:c.484G>T MANE Select ENSP00000345096.6:p.Asp162Tyr
ENST00000648462.1:c.131G>T
ENST00000338791.10:c.484G>T ENSP00000345096.6:p.Asp162Tyr
ENST00000348127.10:c.376G>T ENSP00000265385.8:p.Asp126Tyr
ENST00000354269.9:c.454G>T ENSP00000346219.5:p.Asp152Tyr
ENST00000419067.6:c.385G>T ENSP00000399400.2:p.Asp129Tyr
ENST00000469328.5:c.230G>T
ENST00000470772.5:c.229G>T ENSP00000417296.1:p.Asp77Tyr
ENST00000473463.1:c.*230G>T ENSP00000420469.1:n.*230G>T
ENST00000480861.5:c.229G>T ENSP00000420185.1:p.Asp77Tyr
ENST00000484496.5:c.340G>T ENSP00000418742.1:p.Asp114Tyr
ENST00000489263.1:c.277G>T ENSP00000418592.1:p.Asp93Tyr
ENST00000491376.5:n.653G>T
ENST00000496200.5:c.229G>T ENSP00000420803.1:p.Asp77Tyr
ENST00000496487.5:n.304G>T
ENST00000497868.5:c.277G>T ENSP00000419609.1:p.Asp93Tyr
ENST00000626419.2:c.229G>T ENSP00000486056.1:p.Asp77Tyr
NM_000883.3:c.484G>T NP_000874.2:p.Asp162Tyr
NM_001102605.1:c.454G>T NP_001096075.1:p.Asp152Tyr
NM_001142573.1:c.229G>T NP_001136045.1:p.Asp77Tyr
NM_001142574.1:c.229G>T NP_001136046.1:p.Asp77Tyr
NM_001142575.1:c.229G>T NP_001136047.1:p.Asp77Tyr
NM_001142576.1:c.385G>T NP_001136048.1:p.Asp129Tyr
NM_001304521.1:c.277G>T NP_001291450.1:p.Asp93Tyr
NM_183243.2:c.376G>T NP_899066.1:p.Asp126Tyr
XM_005250314.1:c.253G>T XP_005250371.1:p.Asp85Tyr
XM_006715967.1:c.484G>T XP_006716030.1:p.Asp162Tyr
XM_006715968.1:c.454G>T XP_006716031.1:p.Asp152Tyr
XM_006715969.1:c.376G>T XP_006716032.1:p.Asp126Tyr
XM_006715970.2:c.277G>T XP_006716033.1:p.Asp93Tyr
XM_006715971.1:c.253G>T XP_006716034.1:p.Asp85Tyr
XM_017012172.1:c.253G>T XP_016867661.1:p.Asp85Tyr
XM_017012173.1:c.454G>T XP_016867662.1:p.Asp152Tyr
XM_024446755.1:c.454G>T XP_024302523.1:p.Asp152Tyr
XM_024446756.1:c.376G>T XP_024302524.1:p.Asp126Tyr
XM_024446757.1:c.277G>T XP_024302525.1:p.Asp93Tyr
XM_024446758.1:c.253G>T XP_024302526.1:p.Asp85Tyr
NM_000883.4:c.484G>T MANE Select NP_000874.2:p.Asp162Tyr
NM_001102605.2:c.454G>T NP_001096075.1:p.Asp152Tyr
NM_001142573.2:c.229G>T NP_001136045.1:p.Asp77Tyr
NM_001142574.2:c.229G>T NP_001136046.1:p.Asp77Tyr
NM_001142575.2:c.229G>T NP_001136047.1:p.Asp77Tyr
NM_001142576.2:c.385G>T NP_001136048.1:p.Asp129Tyr
NM_001304521.2:c.277G>T NP_001291450.1:p.Asp93Tyr
NM_183243.3:c.376G>T NP_899066.1:p.Asp126Tyr