Canonical Allele Identifier: CA1742358469
Community Standard Title: NM_000883.4(IMPDH1):c.1575G= (p.Ala525=)
Gene: IMPDH1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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