Canonical Allele Identifier: CA4470816

Gene: IMPDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128394949C>T , CM000669.2:g.128394949C>T	GRCh38
NC_000007.13:g.128035003C>T , CM000669.1:g.128035003C>T	GRCh37
NC_000007.12:g.127822239C>T	NCBI36
NG_009194.1:g.20034G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000883.4:c.1490G>A MANE Select	NP_000874.2:p.Arg497Gln
ENST00000338791.11:c.1490G>A MANE Select	ENSP00000345096.6:p.Arg497Gln
NM_000883.3:c.1490G>A	NP_000874.2:p.Arg497Gln
NM_001102605.1:c.1460G>A	NP_001096075.1:p.Arg487Gln
NM_001102605.2:c.1460G>A	NP_001096075.1:p.Arg487Gln
NM_001142573.1:c.1235G>A	NP_001136045.1:p.Arg412Gln
NM_001142573.2:c.1235G>A	NP_001136045.1:p.Arg412Gln
NM_001142574.1:c.1220G>A	NP_001136046.1:p.Arg407Gln
NM_001142574.2:c.1220G>A	NP_001136046.1:p.Arg407Gln
NM_001142575.1:c.1160G>A	NP_001136047.1:p.Arg387Gln
NM_001142575.2:c.1160G>A	NP_001136047.1:p.Arg387Gln
NM_001142576.1:c.1391G>A	NP_001136048.1:p.Arg464Gln
NM_001142576.2:c.1391G>A	NP_001136048.1:p.Arg464Gln
NM_001304521.1:c.1283G>A	NP_001291450.1:p.Arg428Gln
NM_001304521.2:c.1283G>A	NP_001291450.1:p.Arg428Gln
NM_183243.2:c.1382G>A	NP_899066.1:p.Arg461Gln
NM_183243.3:c.1382G>A	NP_899066.1:p.Arg461Gln
ENST00000338791.10:c.1490G>A	ENSP00000345096.6:p.Arg497Gln
ENST00000348127.10:c.1382G>A	ENSP00000265385.8:p.Arg461Gln
ENST00000348127.11:c.1382G>A	ENSP00000265385.8:p.Arg461Gln
ENST00000354269.9:c.1460G>A	ENSP00000346219.5:p.Arg487Gln
ENST00000419067.6:c.1391G>A	ENSP00000399400.2:p.Arg464Gln
ENST00000460045.1:n.91G>A
ENST00000469328.5:c.1255G>A
ENST00000470772.5:c.1232G>A	ENSP00000417296.1:p.Arg411Gln
ENST00000480861.5:c.1220G>A	ENSP00000420185.1:p.Arg407Gln
ENST00000484496.5:c.1365G>A	ENSP00000418742.1:n.1365G>A
ENST00000484496.6:n.1365G>A
ENST00000496200.5:c.1160G>A	ENSP00000420803.1:p.Arg387Gln
ENST00000626419.2:c.1232G>A	ENSP00000486056.1:p.Arg411Gln
ENST00000648462.1:c.1122G>A
XM_005250314.1:c.1259G>A	XP_005250371.1:p.Arg420Gln
XM_006715967.1:c.1490G>A	XP_006716030.1:p.Arg497Gln
XM_006715968.1:c.1460G>A	XP_006716031.1:p.Arg487Gln
XM_006715969.1:c.1382G>A	XP_006716032.1:p.Arg461Gln
XM_006715970.2:c.1283G>A	XP_006716033.1:p.Arg428Gln
XM_006715971.1:c.1259G>A	XP_006716034.1:p.Arg420Gln
XM_011516156.1:c.872G>A	XP_011514458.1:p.Arg291Gln
XM_011516157.1:c.872G>A	XP_011514459.1:p.Arg291Gln
XM_017012172.1:c.1259G>A	XP_016867661.1:p.Arg420Gln
XM_024446755.1:c.1460G>A	XP_024302523.1:p.Arg487Gln
XM_024446756.1:c.1382G>A	XP_024302524.1:p.Arg461Gln
XM_024446757.1:c.1283G>A	XP_024302525.1:p.Arg428Gln
XM_024446758.1:c.1259G>A	XP_024302526.1:p.Arg420Gln