Canonical Allele Identifier: CA369173449
Community Standard Title: NM_000883.4(IMPDH1):c.698G>C (p.Gly233Ala)
Gene: IMPDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128400421C>G , CM000669.2:g.128400421C>G GRCh38
NC_000007.13:g.128040475C>G , CM000669.1:g.128040475C>G GRCh37
NC_000007.12:g.127827711C>G NCBI36
NG_009194.1:g.14562G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000883.4:c.698G>C MANE Select NP_000874.2:p.Gly233Ala
ENST00000338791.11:c.698G>C MANE Select ENSP00000345096.6:p.Gly233Ala
NM_000883.3:c.698G>C NP_000874.2:p.Gly233Ala
NM_001102605.1:c.668G>C NP_001096075.1:p.Gly223Ala
NM_001102605.2:c.668G>C NP_001096075.1:p.Gly223Ala
NM_001142573.1:c.443G>C NP_001136045.1:p.Gly148Ala
NM_001142573.2:c.443G>C NP_001136045.1:p.Gly148Ala
NM_001142574.1:c.428G>C NP_001136046.1:p.Gly143Ala
NM_001142574.2:c.428G>C NP_001136046.1:p.Gly143Ala
NM_001142575.1:c.368G>C NP_001136047.1:p.Gly123Ala
NM_001142575.2:c.368G>C NP_001136047.1:p.Gly123Ala
NM_001142576.1:c.599G>C NP_001136048.1:p.Gly200Ala
NM_001142576.2:c.599G>C NP_001136048.1:p.Gly200Ala
NM_001304521.1:c.491G>C NP_001291450.1:p.Gly164Ala
NM_001304521.2:c.491G>C NP_001291450.1:p.Gly164Ala
NM_183243.2:c.590G>C NP_899066.1:p.Gly197Ala
NM_183243.3:c.590G>C NP_899066.1:p.Gly197Ala
ENST00000338791.10:c.698G>C ENSP00000345096.6:p.Gly233Ala
ENST00000348127.10:c.590G>C ENSP00000265385.8:p.Gly197Ala
ENST00000348127.11:c.590G>C ENSP00000265385.8:p.Gly197Ala
ENST00000354269.9:c.668G>C ENSP00000346219.5:p.Gly223Ala
ENST00000419067.6:c.599G>C ENSP00000399400.2:p.Gly200Ala
ENST00000468842.1:n.265G>C
ENST00000469328.5:c.441G>C
ENST00000470772.5:c.440G>C ENSP00000417296.1:p.Gly147Ala
ENST00000480861.5:c.428G>C ENSP00000420185.1:p.Gly143Ala
ENST00000484496.5:c.551G>C ENSP00000418742.1:p.Gly184Ala
ENST00000484496.6:n.551G>C
ENST00000489263.1:c.416G>C ENSP00000418592.1:p.Gly139Ala
ENST00000496200.5:c.368G>C ENSP00000420803.1:p.Gly123Ala
ENST00000497868.5:c.491G>C ENSP00000419609.1:p.Gly164Ala
ENST00000626419.2:c.440G>C ENSP00000486056.1:p.Gly147Ala
ENST00000648462.1:c.330G>C
XM_005250314.1:c.467G>C XP_005250371.1:p.Gly156Ala
XM_006715967.1:c.698G>C XP_006716030.1:p.Gly233Ala
XM_006715968.1:c.668G>C XP_006716031.1:p.Gly223Ala
XM_006715969.1:c.590G>C XP_006716032.1:p.Gly197Ala
XM_006715970.2:c.491G>C XP_006716033.1:p.Gly164Ala
XM_006715971.1:c.467G>C XP_006716034.1:p.Gly156Ala
XM_011516156.1:c.58G>C XP_011514458.1:p.Ala20Pro
XM_011516157.1:c.58G>C XP_011514459.1:p.Ala20Pro
XM_017012172.1:c.467G>C XP_016867661.1:p.Gly156Ala
XM_017012173.1:c.668G>C XP_016867662.1:p.Gly223Ala
XM_024446755.1:c.668G>C XP_024302523.1:p.Gly223Ala
XM_024446756.1:c.590G>C XP_024302524.1:p.Gly197Ala
XM_024446757.1:c.491G>C XP_024302525.1:p.Gly164Ala
XM_024446758.1:c.467G>C XP_024302526.1:p.Gly156Ala