Canonical Allele Identifier: CA4471256

Gene: IMPDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128409442T>C , CM000669.2:g.128409442T>C	GRCh38
NC_000007.13:g.128049496T>C , CM000669.1:g.128049496T>C	GRCh37
NC_000007.12:g.127836732T>C	NCBI36
NG_009194.1:g.5541A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000883.4:c.189A>G MANE Select	NP_000874.2:p.Ser63=
ENST00000338791.11:c.189A>G MANE Select	ENSP00000345096.6:p.Ser63=
NM_000883.3:c.189A>G	NP_000874.2:p.Ser63=
NM_001102605.1:c.147-76A>G	NP_001096075.1:n.147-76A>G
NM_001102605.2:c.147-76A>G	NP_001096075.1:n.147-76A>G
NM_001142576.1:c.189A>G	NP_001136048.1:p.Ser63=
NM_001142576.2:c.189A>G	NP_001136048.1:p.Ser63=
NM_001304521.1:c.146+314A>G	NP_001291450.1:n.146+314A>G
NM_001304521.2:c.146+314A>G	NP_001291450.1:n.146+314A>G
NM_183243.2:c.146+314A>G	NP_899066.1:n.146+314A>G
NM_183243.3:c.146+314A>G	NP_899066.1:n.146+314A>G
ENST00000338791.10:c.189A>G	ENSP00000345096.6:p.Ser63=
ENST00000348127.10:c.146+314A>G	ENSP00000265385.8:n.146+314A>G
ENST00000348127.11:c.146+314A>G	ENSP00000265385.8:n.146+314A>G
ENST00000354269.9:c.147-76A>G	ENSP00000346219.5:n.147-76A>G
ENST00000419067.6:c.189A>G	ENSP00000399400.2:p.Ser63=
ENST00000473463.1:c.147-90A>G	ENSP00000420469.1:n.147-90A>G
ENST00000484496.5:c.45A>G	ENSP00000418742.1:p.Ser15=
ENST00000484496.6:n.45A>G
ENST00000489263.1:c.146+314A>G	ENSP00000418592.1:n.146+314A>G
ENST00000491376.5:n.270A>G
ENST00000497868.5:c.146+314A>G	ENSP00000419609.1:n.146+314A>G
ENST00000626419.2:c.-67A>G	ENSP00000486056.1:n.-67A>G
XM_005250314.1:c.-41-90A>G	XP_005250371.1:n.-41-90A>G
XM_006715967.1:c.189A>G	XP_006716030.1:p.Ser63=
XM_006715968.1:c.147-76A>G	XP_006716031.1:n.147-76A>G
XM_006715969.1:c.146+314A>G	XP_006716032.1:n.146+314A>G
XM_006715970.2:c.146+314A>G	XP_006716033.1:n.146+314A>G
XM_006715971.1:c.-41-90A>G	XP_006716034.1:n.-41-90A>G
XM_017012172.1:c.-131A>G	XP_016867661.1:n.-131A>G
XM_017012173.1:c.147-76A>G	XP_016867662.1:n.147-76A>G
XM_024446755.1:c.147-76A>G	XP_024302523.1:n.147-76A>G
XM_024446756.1:c.146+314A>G	XP_024302524.1:n.146+314A>G
XM_024446757.1:c.146+314A>G	XP_024302525.1:n.146+314A>G
XM_024446758.1:c.-131A>G	XP_024302526.1:n.-131A>G