Canonical Allele Identifier: CA457528219
Gene: IMPDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128038519G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398465G>A , CM000669.2:g.128398465G>A GRCh38
NC_000007.13:g.128038519G>A , CM000669.1:g.128038519G>A GRCh37
NC_000007.12:g.127825755G>A NCBI36
NG_009194.1:g.16518C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348127.11:c.915C>T ENSP00000265385.8:p.Asp305=
ENST00000484496.6:n.898C>T
ENST00000338791.11:c.1023C>T MANE Select ENSP00000345096.6:p.Asp341=
ENST00000648462.1:c.655C>T
ENST00000338791.10:c.1023C>T ENSP00000345096.6:p.Asp341=
ENST00000348127.10:c.915C>T ENSP00000265385.8:p.Asp305=
ENST00000354269.9:c.993C>T ENSP00000346219.5:p.Asp331=
ENST00000419067.6:c.924C>T ENSP00000399400.2:p.Asp308=
ENST00000469328.5:c.788C>T
ENST00000470772.5:c.765C>T ENSP00000417296.1:p.Asp255=
ENST00000480861.5:c.753C>T ENSP00000420185.1:p.Asp251=
ENST00000484496.5:c.898C>T ENSP00000418742.1:n.898C>T
ENST00000496200.5:c.693C>T ENSP00000420803.1:p.Asp231=
ENST00000497868.5:c.816C>T ENSP00000419609.1:p.Asp272=
ENST00000626419.2:c.765C>T ENSP00000486056.1:p.Asp255=
NM_000883.3:c.1023C>T NP_000874.2:p.Asp341=
NM_001102605.1:c.993C>T NP_001096075.1:p.Asp331=
NM_001142573.1:c.768C>T NP_001136045.1:p.Asp256=
NM_001142574.1:c.753C>T NP_001136046.1:p.Asp251=
NM_001142575.1:c.693C>T NP_001136047.1:p.Asp231=
NM_001142576.1:c.924C>T NP_001136048.1:p.Asp308=
NM_001304521.1:c.816C>T NP_001291450.1:p.Asp272=
NM_183243.2:c.915C>T NP_899066.1:p.Asp305=
XM_005250314.1:c.792C>T XP_005250371.1:p.Asp264=
XM_006715967.1:c.1023C>T XP_006716030.1:p.Asp341=
XM_006715968.1:c.993C>T XP_006716031.1:p.Asp331=
XM_006715969.1:c.915C>T XP_006716032.1:p.Asp305=
XM_006715970.2:c.816C>T XP_006716033.1:p.Asp272=
XM_006715971.1:c.792C>T XP_006716034.1:p.Asp264=
XM_011516156.1:c.405C>T XP_011514458.1:p.Asp135=
XM_011516157.1:c.405C>T XP_011514459.1:p.Asp135=
XM_017012172.1:c.792C>T XP_016867661.1:p.Asp264=
XM_017012173.1:c.993C>T XP_016867662.1:p.Asp331=
XM_024446755.1:c.993C>T XP_024302523.1:p.Asp331=
XM_024446756.1:c.915C>T XP_024302524.1:p.Asp305=
XM_024446757.1:c.816C>T XP_024302525.1:p.Asp272=
XM_024446758.1:c.792C>T XP_024302526.1:p.Asp264=
NM_000883.4:c.1023C>T MANE Select NP_000874.2:p.Asp341=
NM_001102605.2:c.993C>T NP_001096075.1:p.Asp331=
NM_001142573.2:c.768C>T NP_001136045.1:p.Asp256=
NM_001142574.2:c.753C>T NP_001136046.1:p.Asp251=
NM_001142575.2:c.693C>T NP_001136047.1:p.Asp231=
NM_001142576.2:c.924C>T NP_001136048.1:p.Asp308=
NM_001304521.2:c.816C>T NP_001291450.1:p.Asp272=
NM_183243.3:c.915C>T NP_899066.1:p.Asp305=