Canonical Allele Identifier: CA238635
Gene: IMPDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193126
ClinVar RCV Id: RCV000173172
dbSNP Id: rs767123748

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128409841_128409847dup , CM000669.2:g.128409841_128409847dup GRCh38
NC_000007.13:g.128049895_128049901dup , CM000669.1:g.128049895_128049901dup GRCh37
NC_000007.12:g.127837131_127837137dup NCBI36
NG_009194.1:g.5147_5153dup

Transcript Alleles

HGVS Amino-acid change
ENST00000348127.11:c.66_72dup ENSP00000265385.8:p.Gln25SerfsTer?
ENST00000338791.11:c.66_72dup MANE Select ENSP00000345096.6:p.Gln25SerfsTer29
ENST00000338791.10:c.66_72dup ENSP00000345096.6:p.Gln25SerfsTer29
ENST00000348127.10:c.66_72dup ENSP00000265385.8:p.Gln25SerfsTer?
ENST00000354269.9:c.66_72dup ENSP00000346219.5:p.Gln25SerfsTer?
ENST00000419067.6:c.66_72dup ENSP00000399400.2:p.Gln25SerfsTer29
ENST00000473463.1:c.66_72dup ENSP00000420469.1:p.Gln25SerfsTer?
ENST00000489263.1:c.66_72dup ENSP00000418592.1:p.Gln25SerfsTer?
ENST00000491376.5:n.147_153dup
ENST00000497868.5:c.66_72dup ENSP00000419609.1:p.Gln25SerfsTer?
ENST00000626419.2:c.-190_-184dup ENSP00000486056.1:n.-190_-184dup
NM_000883.3:c.66_72dup NP_000874.2:p.Gln25SerfsTer29
NM_001102605.1:c.66_72dup NP_001096075.1:p.Gln25SerfsTer?
NM_001142576.1:c.66_72dup NP_001136048.1:p.Gln25SerfsTer29
NM_001304521.1:c.66_72dup NP_001291450.1:p.Gln25SerfsTer?
NM_183243.2:c.66_72dup NP_899066.1:p.Gln25SerfsTer?
XM_005250314.1:c.-122_-116dup XP_005250371.1:n.-122_-116dup
XM_006715967.1:c.66_72dup XP_006716030.1:p.Gln25SerfsTer29
XM_006715968.1:c.66_72dup XP_006716031.1:p.Gln25SerfsTer?
XM_006715969.1:c.66_72dup XP_006716032.1:p.Gln25SerfsTer?
XM_006715970.2:c.66_72dup XP_006716033.1:p.Gln25SerfsTer?
XM_006715971.1:c.-122_-116dup XP_006716034.1:n.-122_-116dup
XM_017012172.1:c.-254_-248dup XP_016867661.1:n.-254_-248dup
XM_017012173.1:c.66_72dup XP_016867662.1:p.Gln25SerfsTer?
XM_024446755.1:c.66_72dup XP_024302523.1:p.Gln25SerfsTer?
XM_024446756.1:c.66_72dup XP_024302524.1:p.Gln25SerfsTer?
XM_024446757.1:c.66_72dup XP_024302525.1:p.Gln25SerfsTer?
XM_024446758.1:c.-254_-248dup XP_024302526.1:n.-254_-248dup
NM_000883.4:c.66_72dup MANE Select NP_000874.2:p.Gln25SerfsTer29
NM_001102605.2:c.66_72dup NP_001096075.1:p.Gln25SerfsTer?
NM_001142576.2:c.66_72dup NP_001136048.1:p.Gln25SerfsTer29
NM_001304521.2:c.66_72dup NP_001291450.1:p.Gln25SerfsTer?
NM_183243.3:c.66_72dup NP_899066.1:p.Gln25SerfsTer?