Canonical Allele Identifier: CA257369
Gene: IMPDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 14834
dbSNP Id: rs121912550

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398557C>T , CM000669.2:g.128398557C>T GRCh38
NC_000007.13:g.128038611C>T , CM000669.1:g.128038611C>T GRCh37
NC_000007.12:g.127825847C>T NCBI36
NG_009194.1:g.16426G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348127.11:c.823G>A ENSP00000265385.8:p.Asp275Asn
ENST00000484496.6:n.806G>A
ENST00000338791.11:c.931G>A MANE Select ENSP00000345096.6:p.Asp311Asn
ENST00000648462.1:c.563G>A
ENST00000338791.10:c.931G>A ENSP00000345096.6:p.Asp311Asn
ENST00000348127.10:c.823G>A ENSP00000265385.8:p.Asp275Asn
ENST00000354269.9:c.901G>A ENSP00000346219.5:p.Asp301Asn
ENST00000419067.6:c.832G>A ENSP00000399400.2:p.Asp278Asn
ENST00000468842.1:n.520G>A
ENST00000469328.5:c.696G>A
ENST00000470772.5:c.673G>A ENSP00000417296.1:p.Asp225Asn
ENST00000480861.5:c.661G>A ENSP00000420185.1:p.Asp221Asn
ENST00000484496.5:c.806G>A ENSP00000418742.1:n.806G>A
ENST00000496200.5:c.601G>A ENSP00000420803.1:p.Asp201Asn
ENST00000497868.5:c.724G>A ENSP00000419609.1:p.Asp242Asn
ENST00000626419.2:c.673G>A ENSP00000486056.1:p.Asp225Asn
NM_000883.3:c.931G>A NP_000874.2:p.Asp311Asn
NM_001102605.1:c.901G>A NP_001096075.1:p.Asp301Asn
NM_001142573.1:c.676G>A NP_001136045.1:p.Asp226Asn
NM_001142574.1:c.661G>A NP_001136046.1:p.Asp221Asn
NM_001142575.1:c.601G>A NP_001136047.1:p.Asp201Asn
NM_001142576.1:c.832G>A NP_001136048.1:p.Asp278Asn
NM_001304521.1:c.724G>A NP_001291450.1:p.Asp242Asn
NM_183243.2:c.823G>A NP_899066.1:p.Asp275Asn
XM_005250314.1:c.700G>A XP_005250371.1:p.Asp234Asn
XM_006715967.1:c.931G>A XP_006716030.1:p.Asp311Asn
XM_006715968.1:c.901G>A XP_006716031.1:p.Asp301Asn
XM_006715969.1:c.823G>A XP_006716032.1:p.Asp275Asn
XM_006715970.2:c.724G>A XP_006716033.1:p.Asp242Asn
XM_006715971.1:c.700G>A XP_006716034.1:p.Asp234Asn
XM_011516156.1:c.313G>A XP_011514458.1:p.Asp105Asn
XM_011516157.1:c.313G>A XP_011514459.1:p.Asp105Asn
XM_017012172.1:c.700G>A XP_016867661.1:p.Asp234Asn
XM_017012173.1:c.901G>A XP_016867662.1:p.Asp301Asn
XM_024446755.1:c.901G>A XP_024302523.1:p.Asp301Asn
XM_024446756.1:c.823G>A XP_024302524.1:p.Asp275Asn
XM_024446757.1:c.724G>A XP_024302525.1:p.Asp242Asn
XM_024446758.1:c.700G>A XP_024302526.1:p.Asp234Asn
NM_000883.4:c.931G>A MANE Select NP_000874.2:p.Asp311Asn
NM_001102605.2:c.901G>A NP_001096075.1:p.Asp301Asn
NM_001142573.2:c.676G>A NP_001136045.1:p.Asp226Asn
NM_001142574.2:c.661G>A NP_001136046.1:p.Asp221Asn
NM_001142575.2:c.601G>A NP_001136047.1:p.Asp201Asn
NM_001142576.2:c.832G>A NP_001136048.1:p.Asp278Asn
NM_001304521.2:c.724G>A NP_001291450.1:p.Asp242Asn
NM_183243.3:c.823G>A NP_899066.1:p.Asp275Asn