Canonical Allele Identifier: CA369174105
Gene: IMPDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1042250

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128400835G>T , CM000669.2:g.128400835G>T GRCh38
NC_000007.13:g.128040889G>T , CM000669.1:g.128040889G>T GRCh37
NC_000007.12:g.127828125G>T NCBI36
NG_009194.1:g.14148C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000348127.11:c.453C>A ENSP00000265385.8:p.Asn151Lys
ENST00000484496.6:n.417C>A
ENST00000338791.11:c.561C>A MANE Select ENSP00000345096.6:p.Asn187Lys
ENST00000648462.1:c.208C>A
ENST00000338791.10:c.561C>A ENSP00000345096.6:p.Asn187Lys
ENST00000348127.10:c.453C>A ENSP00000265385.8:p.Asn151Lys
ENST00000354269.9:c.531C>A ENSP00000346219.5:p.Asn177Lys
ENST00000419067.6:c.462C>A ENSP00000399400.2:p.Asn154Lys
ENST00000469328.5:c.307C>A
ENST00000470772.5:c.306C>A ENSP00000417296.1:p.Asn102Lys
ENST00000480861.5:c.306C>A ENSP00000420185.1:p.Asn102Lys
ENST00000484496.5:c.417C>A ENSP00000418742.1:p.Asn139Lys
ENST00000489263.1:c.297+180C>A ENSP00000418592.1:n.297+180C>A
ENST00000491376.5:n.730C>A
ENST00000496200.5:c.249+180C>A ENSP00000420803.1:n.249+180C>A
ENST00000496487.5:n.381C>A
ENST00000497868.5:c.354C>A ENSP00000419609.1:p.Asn118Lys
ENST00000626419.2:c.306C>A ENSP00000486056.1:p.Asn102Lys
NM_000883.3:c.561C>A NP_000874.2:p.Asn187Lys
NM_001102605.1:c.531C>A NP_001096075.1:p.Asn177Lys
NM_001142573.1:c.306C>A NP_001136045.1:p.Asn102Lys
NM_001142574.1:c.306C>A NP_001136046.1:p.Asn102Lys
NM_001142575.1:c.249+180C>A NP_001136047.1:n.249+180C>A
NM_001142576.1:c.462C>A NP_001136048.1:p.Asn154Lys
NM_001304521.1:c.354C>A NP_001291450.1:p.Asn118Lys
NM_183243.2:c.453C>A NP_899066.1:p.Asn151Lys
XM_005250314.1:c.330C>A XP_005250371.1:p.Asn110Lys
XM_006715967.1:c.561C>A XP_006716030.1:p.Asn187Lys
XM_006715968.1:c.531C>A XP_006716031.1:p.Asn177Lys
XM_006715969.1:c.453C>A XP_006716032.1:p.Asn151Lys
XM_006715970.2:c.354C>A XP_006716033.1:p.Asn118Lys
XM_006715971.1:c.330C>A XP_006716034.1:p.Asn110Lys
XM_017012172.1:c.330C>A XP_016867661.1:p.Asn110Lys
XM_017012173.1:c.531C>A XP_016867662.1:p.Asn177Lys
XM_024446755.1:c.531C>A XP_024302523.1:p.Asn177Lys
XM_024446756.1:c.453C>A XP_024302524.1:p.Asn151Lys
XM_024446757.1:c.354C>A XP_024302525.1:p.Asn118Lys
XM_024446758.1:c.330C>A XP_024302526.1:p.Asn110Lys
NM_000883.4:c.561C>A MANE Select NP_000874.2:p.Asn187Lys
NM_001102605.2:c.531C>A NP_001096075.1:p.Asn177Lys
NM_001142573.2:c.306C>A NP_001136045.1:p.Asn102Lys
NM_001142574.2:c.306C>A NP_001136046.1:p.Asn102Lys
NM_001142575.2:c.249+180C>A NP_001136047.1:n.249+180C>A
NM_001142576.2:c.462C>A NP_001136048.1:p.Asn154Lys
NM_001304521.2:c.354C>A NP_001291450.1:p.Asn118Lys
NM_183243.3:c.453C>A NP_899066.1:p.Asn151Lys