Canonical Allele Identifier: CA369163237

Gene: IMPDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128395022A>G , CM000669.2:g.128395022A>G	GRCh38
NC_000007.13:g.128035076A>G , CM000669.1:g.128035076A>G	GRCh37
NC_000007.12:g.127822312A>G	NCBI36
NG_009194.1:g.19961T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000883.4:c.1417T>C MANE Select	NP_000874.2:p.Ser473Pro
ENST00000338791.11:c.1417T>C MANE Select	ENSP00000345096.6:p.Ser473Pro
NM_000883.3:c.1417T>C	NP_000874.2:p.Ser473Pro
NM_001102605.1:c.1387T>C	NP_001096075.1:p.Ser463Pro
NM_001102605.2:c.1387T>C	NP_001096075.1:p.Ser463Pro
NM_001142573.1:c.1162T>C	NP_001136045.1:p.Ser388Pro
NM_001142573.2:c.1162T>C	NP_001136045.1:p.Ser388Pro
NM_001142574.1:c.1147T>C	NP_001136046.1:p.Ser383Pro
NM_001142574.2:c.1147T>C	NP_001136046.1:p.Ser383Pro
NM_001142575.1:c.1087T>C	NP_001136047.1:p.Ser363Pro
NM_001142575.2:c.1087T>C	NP_001136047.1:p.Ser363Pro
NM_001142576.1:c.1318T>C	NP_001136048.1:p.Ser440Pro
NM_001142576.2:c.1318T>C	NP_001136048.1:p.Ser440Pro
NM_001304521.1:c.1210T>C	NP_001291450.1:p.Ser404Pro
NM_001304521.2:c.1210T>C	NP_001291450.1:p.Ser404Pro
NM_183243.2:c.1309T>C	NP_899066.1:p.Ser437Pro
NM_183243.3:c.1309T>C	NP_899066.1:p.Ser437Pro
ENST00000338791.10:c.1417T>C	ENSP00000345096.6:p.Ser473Pro
ENST00000348127.10:c.1309T>C	ENSP00000265385.8:p.Ser437Pro
ENST00000348127.11:c.1309T>C	ENSP00000265385.8:p.Ser437Pro
ENST00000354269.9:c.1387T>C	ENSP00000346219.5:p.Ser463Pro
ENST00000419067.6:c.1318T>C	ENSP00000399400.2:p.Ser440Pro
ENST00000460045.1:n.42-24T>C
ENST00000469328.5:c.1182T>C
ENST00000470772.5:c.1159T>C	ENSP00000417296.1:p.Ser387Pro
ENST00000480861.5:c.1147T>C	ENSP00000420185.1:p.Ser383Pro
ENST00000484496.5:c.1292T>C	ENSP00000418742.1:n.1292T>C
ENST00000484496.6:n.1292T>C
ENST00000496200.5:c.1087T>C	ENSP00000420803.1:p.Ser363Pro
ENST00000626419.2:c.1159T>C	ENSP00000486056.1:p.Ser387Pro
ENST00000648462.1:c.1049T>C
XM_005250314.1:c.1186T>C	XP_005250371.1:p.Ser396Pro
XM_006715967.1:c.1417T>C	XP_006716030.1:p.Ser473Pro
XM_006715968.1:c.1387T>C	XP_006716031.1:p.Ser463Pro
XM_006715969.1:c.1309T>C	XP_006716032.1:p.Ser437Pro
XM_006715970.2:c.1210T>C	XP_006716033.1:p.Ser404Pro
XM_006715971.1:c.1186T>C	XP_006716034.1:p.Ser396Pro
XM_011516156.1:c.799T>C	XP_011514458.1:p.Ser267Pro
XM_011516157.1:c.799T>C	XP_011514459.1:p.Ser267Pro
XM_017012172.1:c.1186T>C	XP_016867661.1:p.Ser396Pro
XM_024446755.1:c.1387T>C	XP_024302523.1:p.Ser463Pro
XM_024446756.1:c.1309T>C	XP_024302524.1:p.Ser437Pro
XM_024446757.1:c.1210T>C	XP_024302525.1:p.Ser404Pro
XM_024446758.1:c.1186T>C	XP_024302526.1:p.Ser396Pro