Canonical Allele Identifier: CA369169121
Gene: IMPDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398530G>C , CM000669.2:g.128398530G>C GRCh38
NC_000007.13:g.128038584G>C , CM000669.1:g.128038584G>C GRCh37
NC_000007.12:g.127825820G>C NCBI36
NG_009194.1:g.16453C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.850C>G ENSP00000265385.8:p.Leu284Val
ENST00000484496.6:n.833C>G
ENST00000338791.11:c.958C>G MANE Select ENSP00000345096.6:p.Leu320Val
ENST00000648462.1:c.590C>G
ENST00000338791.10:c.958C>G ENSP00000345096.6:p.Leu320Val
ENST00000348127.10:c.850C>G ENSP00000265385.8:p.Leu284Val
ENST00000354269.9:c.928C>G ENSP00000346219.5:p.Leu310Val
ENST00000419067.6:c.859C>G ENSP00000399400.2:p.Leu287Val
ENST00000468842.1:n.547C>G
ENST00000469328.5:c.723C>G
ENST00000470772.5:c.700C>G ENSP00000417296.1:p.Leu234Val
ENST00000480861.5:c.688C>G ENSP00000420185.1:p.Leu230Val
ENST00000484496.5:c.833C>G ENSP00000418742.1:n.833C>G
ENST00000496200.5:c.628C>G ENSP00000420803.1:p.Leu210Val
ENST00000497868.5:c.751C>G ENSP00000419609.1:p.Leu251Val
ENST00000626419.2:c.700C>G ENSP00000486056.1:p.Leu234Val
NM_000883.3:c.958C>G NP_000874.2:p.Leu320Val
NM_001102605.1:c.928C>G NP_001096075.1:p.Leu310Val
NM_001142573.1:c.703C>G NP_001136045.1:p.Leu235Val
NM_001142574.1:c.688C>G NP_001136046.1:p.Leu230Val
NM_001142575.1:c.628C>G NP_001136047.1:p.Leu210Val
NM_001142576.1:c.859C>G NP_001136048.1:p.Leu287Val
NM_001304521.1:c.751C>G NP_001291450.1:p.Leu251Val
NM_183243.2:c.850C>G NP_899066.1:p.Leu284Val
XM_005250314.1:c.727C>G XP_005250371.1:p.Leu243Val
XM_006715967.1:c.958C>G XP_006716030.1:p.Leu320Val
XM_006715968.1:c.928C>G XP_006716031.1:p.Leu310Val
XM_006715969.1:c.850C>G XP_006716032.1:p.Leu284Val
XM_006715970.2:c.751C>G XP_006716033.1:p.Leu251Val
XM_006715971.1:c.727C>G XP_006716034.1:p.Leu243Val
XM_011516156.1:c.340C>G XP_011514458.1:p.Leu114Val
XM_011516157.1:c.340C>G XP_011514459.1:p.Leu114Val
XM_017012172.1:c.727C>G XP_016867661.1:p.Leu243Val
XM_017012173.1:c.928C>G XP_016867662.1:p.Leu310Val
XM_024446755.1:c.928C>G XP_024302523.1:p.Leu310Val
XM_024446756.1:c.850C>G XP_024302524.1:p.Leu284Val
XM_024446757.1:c.751C>G XP_024302525.1:p.Leu251Val
XM_024446758.1:c.727C>G XP_024302526.1:p.Leu243Val
NM_000883.4:c.958C>G MANE Select NP_000874.2:p.Leu320Val
NM_001102605.2:c.928C>G NP_001096075.1:p.Leu310Val
NM_001142573.2:c.703C>G NP_001136045.1:p.Leu235Val
NM_001142574.2:c.688C>G NP_001136046.1:p.Leu230Val
NM_001142575.2:c.628C>G NP_001136047.1:p.Leu210Val
NM_001142576.2:c.859C>G NP_001136048.1:p.Leu287Val
NM_001304521.2:c.751C>G NP_001291450.1:p.Leu251Val
NM_183243.3:c.850C>G NP_899066.1:p.Leu284Val