Canonical Allele Identifier: CA457528378
Gene: IMPDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128038624G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398570G>A , CM000669.2:g.128398570G>A GRCh38
NC_000007.13:g.128038624G>A , CM000669.1:g.128038624G>A GRCh37
NC_000007.12:g.127825860G>A NCBI36
NG_009194.1:g.16413C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348127.11:c.810C>T ENSP00000265385.8:p.Ile270=
ENST00000484496.6:n.793C>T
ENST00000338791.11:c.918C>T MANE Select ENSP00000345096.6:p.Ile306=
ENST00000648462.1:c.550C>T
ENST00000338791.10:c.918C>T ENSP00000345096.6:p.Ile306=
ENST00000348127.10:c.810C>T ENSP00000265385.8:p.Ile270=
ENST00000354269.9:c.888C>T ENSP00000346219.5:p.Ile296=
ENST00000419067.6:c.819C>T ENSP00000399400.2:p.Ile273=
ENST00000468842.1:n.507C>T
ENST00000469328.5:c.683C>T
ENST00000470772.5:c.660C>T ENSP00000417296.1:p.Ile220=
ENST00000480861.5:c.648C>T ENSP00000420185.1:p.Ile216=
ENST00000484496.5:c.793C>T ENSP00000418742.1:n.793C>T
ENST00000496200.5:c.588C>T ENSP00000420803.1:p.Ile196=
ENST00000497868.5:c.711C>T ENSP00000419609.1:p.Ile237=
ENST00000626419.2:c.660C>T ENSP00000486056.1:p.Ile220=
NM_000883.3:c.918C>T NP_000874.2:p.Ile306=
NM_001102605.1:c.888C>T NP_001096075.1:p.Ile296=
NM_001142573.1:c.663C>T NP_001136045.1:p.Ile221=
NM_001142574.1:c.648C>T NP_001136046.1:p.Ile216=
NM_001142575.1:c.588C>T NP_001136047.1:p.Ile196=
NM_001142576.1:c.819C>T NP_001136048.1:p.Ile273=
NM_001304521.1:c.711C>T NP_001291450.1:p.Ile237=
NM_183243.2:c.810C>T NP_899066.1:p.Ile270=
XM_005250314.1:c.687C>T XP_005250371.1:p.Ile229=
XM_006715967.1:c.918C>T XP_006716030.1:p.Ile306=
XM_006715968.1:c.888C>T XP_006716031.1:p.Ile296=
XM_006715969.1:c.810C>T XP_006716032.1:p.Ile270=
XM_006715970.2:c.711C>T XP_006716033.1:p.Ile237=
XM_006715971.1:c.687C>T XP_006716034.1:p.Ile229=
XM_011516156.1:c.300C>T XP_011514458.1:p.Ile100=
XM_011516157.1:c.300C>T XP_011514459.1:p.Ile100=
XM_017012172.1:c.687C>T XP_016867661.1:p.Ile229=
XM_017012173.1:c.888C>T XP_016867662.1:p.Ile296=
XM_024446755.1:c.888C>T XP_024302523.1:p.Ile296=
XM_024446756.1:c.810C>T XP_024302524.1:p.Ile270=
XM_024446757.1:c.711C>T XP_024302525.1:p.Ile237=
XM_024446758.1:c.687C>T XP_024302526.1:p.Ile229=
NM_000883.4:c.918C>T MANE Select NP_000874.2:p.Ile306=
NM_001102605.2:c.888C>T NP_001096075.1:p.Ile296=
NM_001142573.2:c.663C>T NP_001136045.1:p.Ile221=
NM_001142574.2:c.648C>T NP_001136046.1:p.Ile216=
NM_001142575.2:c.588C>T NP_001136047.1:p.Ile196=
NM_001142576.2:c.819C>T NP_001136048.1:p.Ile273=
NM_001304521.2:c.711C>T NP_001291450.1:p.Ile237=
NM_183243.3:c.810C>T NP_899066.1:p.Ile270=