Canonical Allele Identifier: CA457528382
Gene: IMPDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128038627G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398573G>A , CM000669.2:g.128398573G>A GRCh38
NC_000007.13:g.128038627G>A , CM000669.1:g.128038627G>A GRCh37
NC_000007.12:g.127825863G>A NCBI36
NG_009194.1:g.16410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.807C>T ENSP00000265385.8:p.Ala269=
ENST00000484496.6:n.790C>T
ENST00000338791.11:c.915C>T MANE Select ENSP00000345096.6:p.Ala305=
ENST00000648462.1:c.547C>T
ENST00000338791.10:c.915C>T ENSP00000345096.6:p.Ala305=
ENST00000348127.10:c.807C>T ENSP00000265385.8:p.Ala269=
ENST00000354269.9:c.885C>T ENSP00000346219.5:p.Ala295=
ENST00000419067.6:c.816C>T ENSP00000399400.2:p.Ala272=
ENST00000468842.1:n.504C>T
ENST00000469328.5:c.680C>T
ENST00000470772.5:c.657C>T ENSP00000417296.1:p.Ala219=
ENST00000480861.5:c.645C>T ENSP00000420185.1:p.Ala215=
ENST00000484496.5:c.790C>T ENSP00000418742.1:n.790C>T
ENST00000496200.5:c.585C>T ENSP00000420803.1:p.Ala195=
ENST00000497868.5:c.708C>T ENSP00000419609.1:p.Ala236=
ENST00000626419.2:c.657C>T ENSP00000486056.1:p.Ala219=
NM_000883.3:c.915C>T NP_000874.2:p.Ala305=
NM_001102605.1:c.885C>T NP_001096075.1:p.Ala295=
NM_001142573.1:c.660C>T NP_001136045.1:p.Ala220=
NM_001142574.1:c.645C>T NP_001136046.1:p.Ala215=
NM_001142575.1:c.585C>T NP_001136047.1:p.Ala195=
NM_001142576.1:c.816C>T NP_001136048.1:p.Ala272=
NM_001304521.1:c.708C>T NP_001291450.1:p.Ala236=
NM_183243.2:c.807C>T NP_899066.1:p.Ala269=
XM_005250314.1:c.684C>T XP_005250371.1:p.Ala228=
XM_006715967.1:c.915C>T XP_006716030.1:p.Ala305=
XM_006715968.1:c.885C>T XP_006716031.1:p.Ala295=
XM_006715969.1:c.807C>T XP_006716032.1:p.Ala269=
XM_006715970.2:c.708C>T XP_006716033.1:p.Ala236=
XM_006715971.1:c.684C>T XP_006716034.1:p.Ala228=
XM_011516156.1:c.297C>T XP_011514458.1:p.Ala99=
XM_011516157.1:c.297C>T XP_011514459.1:p.Ala99=
XM_017012172.1:c.684C>T XP_016867661.1:p.Ala228=
XM_017012173.1:c.885C>T XP_016867662.1:p.Ala295=
XM_024446755.1:c.885C>T XP_024302523.1:p.Ala295=
XM_024446756.1:c.807C>T XP_024302524.1:p.Ala269=
XM_024446757.1:c.708C>T XP_024302525.1:p.Ala236=
XM_024446758.1:c.684C>T XP_024302526.1:p.Ala228=
NM_000883.4:c.915C>T MANE Select NP_000874.2:p.Ala305=
NM_001102605.2:c.885C>T NP_001096075.1:p.Ala295=
NM_001142573.2:c.660C>T NP_001136045.1:p.Ala220=
NM_001142574.2:c.645C>T NP_001136046.1:p.Ala215=
NM_001142575.2:c.585C>T NP_001136047.1:p.Ala195=
NM_001142576.2:c.816C>T NP_001136048.1:p.Ala272=
NM_001304521.2:c.708C>T NP_001291450.1:p.Ala236=
NM_183243.3:c.807C>T NP_899066.1:p.Ala269=