Canonical Allele Identifier: CA166121744
Gene: IMPDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2228075

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128394575C>G , CM000669.2:g.128394575C>G GRCh38
NC_000007.13:g.128034629C>G , CM000669.1:g.128034629C>G GRCh37
NC_000007.12:g.127821865C>G NCBI36
NG_009194.1:g.20408G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000348127.11:c.1467G>C ENSP00000265385.8:p.Ala489=
ENST00000484496.6:n.1450G>C
ENST00000338791.11:c.1575G>C MANE Select ENSP00000345096.6:p.Ala525=
ENST00000648462.1:c.1207G>C
ENST00000338791.10:c.1575G>C ENSP00000345096.6:p.Ala525=
ENST00000348127.10:c.1467G>C ENSP00000265385.8:p.Ala489=
ENST00000354269.9:c.1545G>C ENSP00000346219.5:p.Ala515=
ENST00000419067.6:c.1476G>C ENSP00000399400.2:p.Ala492=
ENST00000460045.1:n.465G>C
ENST00000469328.5:c.1340G>C
ENST00000470772.5:c.1317G>C ENSP00000417296.1:p.Ala439=
ENST00000480861.5:c.1305G>C ENSP00000420185.1:p.Ala435=
ENST00000484496.5:c.1450G>C ENSP00000418742.1:n.1450G>C
ENST00000496200.5:c.1245G>C ENSP00000420803.1:p.Ala415=
ENST00000626419.2:c.1317G>C ENSP00000486056.1:p.Ala439=
NM_000883.3:c.1575G>C NP_000874.2:p.Ala525=
NM_001102605.1:c.1545G>C NP_001096075.1:p.Ala515=
NM_001142573.1:c.1320G>C NP_001136045.1:p.Ala440=
NM_001142574.1:c.1305G>C NP_001136046.1:p.Ala435=
NM_001142575.1:c.1245G>C NP_001136047.1:p.Ala415=
NM_001142576.1:c.1476G>C NP_001136048.1:p.Ala492=
NM_001304521.1:c.1368G>C NP_001291450.1:p.Ala456=
NM_183243.2:c.1467G>C NP_899066.1:p.Ala489=
XM_005250314.1:c.1344G>C XP_005250371.1:p.Ala448=
XM_006715967.1:c.1575G>C XP_006716030.1:p.Ala525=
XM_006715968.1:c.1545G>C XP_006716031.1:p.Ala515=
XM_006715969.1:c.1467G>C XP_006716032.1:p.Ala489=
XM_006715970.2:c.1368G>C XP_006716033.1:p.Ala456=
XM_006715971.1:c.1344G>C XP_006716034.1:p.Ala448=
XM_011516156.1:c.957G>C XP_011514458.1:p.Ala319=
XM_011516157.1:c.957G>C XP_011514459.1:p.Ala319=
XM_017012172.1:c.1344G>C XP_016867661.1:p.Ala448=
XM_024446755.1:c.1545G>C XP_024302523.1:p.Ala515=
XM_024446756.1:c.1467G>C XP_024302524.1:p.Ala489=
XM_024446757.1:c.1368G>C XP_024302525.1:p.Ala456=
XM_024446758.1:c.1344G>C XP_024302526.1:p.Ala448=
NM_000883.4:c.1575G>C MANE Select NP_000874.2:p.Ala525=
NM_001102605.2:c.1545G>C NP_001096075.1:p.Ala515=
NM_001142573.2:c.1320G>C NP_001136045.1:p.Ala440=
NM_001142574.2:c.1305G>C NP_001136046.1:p.Ala435=
NM_001142575.2:c.1245G>C NP_001136047.1:p.Ala415=
NM_001142576.2:c.1476G>C NP_001136048.1:p.Ala492=
NM_001304521.2:c.1368G>C NP_001291450.1:p.Ala456=
NM_183243.3:c.1467G>C NP_899066.1:p.Ala489=