Canonical Allele Identifier: CA4471191

Gene: IMPDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128403731A>G , CM000669.2:g.128403731A>G	GRCh38
NC_000007.13:g.128043785A>G , CM000669.1:g.128043785A>G	GRCh37
NC_000007.12:g.127831021A>G	NCBI36
NG_009194.1:g.11252T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000883.4:c.377T>C MANE Select	NP_000874.2:p.Phe126Ser
ENST00000338791.11:c.377T>C MANE Select	ENSP00000345096.6:p.Phe126Ser
NM_000883.3:c.377T>C	NP_000874.2:p.Phe126Ser
NM_001102605.1:c.347T>C	NP_001096075.1:p.Phe116Ser
NM_001102605.2:c.347T>C	NP_001096075.1:p.Phe116Ser
NM_001142573.1:c.122T>C	NP_001136045.1:p.Phe41Ser
NM_001142573.2:c.122T>C	NP_001136045.1:p.Phe41Ser
NM_001142574.1:c.122T>C	NP_001136046.1:p.Phe41Ser
NM_001142574.2:c.122T>C	NP_001136046.1:p.Phe41Ser
NM_001142575.1:c.122T>C	NP_001136047.1:p.Phe41Ser
NM_001142575.2:c.122T>C	NP_001136047.1:p.Phe41Ser
NM_001142576.1:c.278T>C	NP_001136048.1:p.Phe93Ser
NM_001142576.2:c.278T>C	NP_001136048.1:p.Phe93Ser
NM_001304521.1:c.170T>C	NP_001291450.1:p.Phe57Ser
NM_001304521.2:c.170T>C	NP_001291450.1:p.Phe57Ser
NM_183243.2:c.269T>C	NP_899066.1:p.Phe90Ser
NM_183243.3:c.269T>C	NP_899066.1:p.Phe90Ser
ENST00000338791.10:c.377T>C	ENSP00000345096.6:p.Phe126Ser
ENST00000348127.10:c.269T>C	ENSP00000265385.8:p.Phe90Ser
ENST00000348127.11:c.269T>C	ENSP00000265385.8:p.Phe90Ser
ENST00000354269.9:c.347T>C	ENSP00000346219.5:p.Phe116Ser
ENST00000419067.6:c.278T>C	ENSP00000399400.2:p.Phe93Ser
ENST00000469328.5:c.123T>C
ENST00000470772.5:c.122T>C	ENSP00000417296.1:p.Phe41Ser
ENST00000473463.1:c.*123T>C	ENSP00000420469.1:n.*123T>C
ENST00000480861.5:c.122T>C	ENSP00000420185.1:p.Phe41Ser
ENST00000484496.5:c.233T>C	ENSP00000418742.1:p.Phe78Ser
ENST00000484496.6:n.233T>C
ENST00000489263.1:c.170T>C	ENSP00000418592.1:p.Phe57Ser
ENST00000491376.5:n.546T>C
ENST00000496200.5:c.122T>C	ENSP00000420803.1:p.Phe41Ser
ENST00000496487.5:n.197T>C
ENST00000497868.5:c.170T>C	ENSP00000419609.1:p.Phe57Ser
ENST00000626419.2:c.122T>C	ENSP00000486056.1:p.Phe41Ser
ENST00000648462.1:c.24T>C
XM_005250314.1:c.146T>C	XP_005250371.1:p.Phe49Ser
XM_006715967.1:c.377T>C	XP_006716030.1:p.Phe126Ser
XM_006715968.1:c.347T>C	XP_006716031.1:p.Phe116Ser
XM_006715969.1:c.269T>C	XP_006716032.1:p.Phe90Ser
XM_006715970.2:c.170T>C	XP_006716033.1:p.Phe57Ser
XM_006715971.1:c.146T>C	XP_006716034.1:p.Phe49Ser
XM_017012172.1:c.146T>C	XP_016867661.1:p.Phe49Ser
XM_017012173.1:c.347T>C	XP_016867662.1:p.Phe116Ser
XM_024446755.1:c.347T>C	XP_024302523.1:p.Phe116Ser
XM_024446756.1:c.269T>C	XP_024302524.1:p.Phe90Ser
XM_024446757.1:c.170T>C	XP_024302525.1:p.Phe57Ser
XM_024446758.1:c.146T>C	XP_024302526.1:p.Phe49Ser