Canonical Allele Identifier: CA369169391

Gene: IMPDH1

Linked Data

• gnomAD v4: 7-128398554-G-C
• MyVariant Identifiers: chr7:g.128038608G>C (hg19) ; chr7:g.128398554G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398554G>C , CM000669.2:g.128398554G>C	GRCh38
NC_000007.13:g.128038608G>C , CM000669.1:g.128038608G>C	GRCh37
NC_000007.12:g.127825844G>C	NCBI36
NG_009194.1:g.16429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.826C>G	ENSP00000265385.8:p.Leu276Val
ENST00000484496.6:n.809C>G
ENST00000338791.11:c.934C>G MANE Select	ENSP00000345096.6:p.Leu312Val
ENST00000648462.1:c.566C>G
ENST00000338791.10:c.934C>G	ENSP00000345096.6:p.Leu312Val
ENST00000348127.10:c.826C>G	ENSP00000265385.8:p.Leu276Val
ENST00000354269.9:c.904C>G	ENSP00000346219.5:p.Leu302Val
ENST00000419067.6:c.835C>G	ENSP00000399400.2:p.Leu279Val
ENST00000468842.1:n.523C>G
ENST00000469328.5:c.699C>G
ENST00000470772.5:c.676C>G	ENSP00000417296.1:p.Leu226Val
ENST00000480861.5:c.664C>G	ENSP00000420185.1:p.Leu222Val
ENST00000484496.5:c.809C>G	ENSP00000418742.1:n.809C>G
ENST00000496200.5:c.604C>G	ENSP00000420803.1:p.Leu202Val
ENST00000497868.5:c.727C>G	ENSP00000419609.1:p.Leu243Val
ENST00000626419.2:c.676C>G	ENSP00000486056.1:p.Leu226Val
NM_000883.3:c.934C>G	NP_000874.2:p.Leu312Val
NM_001102605.1:c.904C>G	NP_001096075.1:p.Leu302Val
NM_001142573.1:c.679C>G	NP_001136045.1:p.Leu227Val
NM_001142574.1:c.664C>G	NP_001136046.1:p.Leu222Val
NM_001142575.1:c.604C>G	NP_001136047.1:p.Leu202Val
NM_001142576.1:c.835C>G	NP_001136048.1:p.Leu279Val
NM_001304521.1:c.727C>G	NP_001291450.1:p.Leu243Val
NM_183243.2:c.826C>G	NP_899066.1:p.Leu276Val
XM_005250314.1:c.703C>G	XP_005250371.1:p.Leu235Val
XM_006715967.1:c.934C>G	XP_006716030.1:p.Leu312Val
XM_006715968.1:c.904C>G	XP_006716031.1:p.Leu302Val
XM_006715969.1:c.826C>G	XP_006716032.1:p.Leu276Val
XM_006715970.2:c.727C>G	XP_006716033.1:p.Leu243Val
XM_006715971.1:c.703C>G	XP_006716034.1:p.Leu235Val
XM_011516156.1:c.316C>G	XP_011514458.1:p.Leu106Val
XM_011516157.1:c.316C>G	XP_011514459.1:p.Leu106Val
XM_017012172.1:c.703C>G	XP_016867661.1:p.Leu235Val
XM_017012173.1:c.904C>G	XP_016867662.1:p.Leu302Val
XM_024446755.1:c.904C>G	XP_024302523.1:p.Leu302Val
XM_024446756.1:c.826C>G	XP_024302524.1:p.Leu276Val
XM_024446757.1:c.727C>G	XP_024302525.1:p.Leu243Val
XM_024446758.1:c.703C>G	XP_024302526.1:p.Leu235Val
NM_000883.4:c.934C>G MANE Select	NP_000874.2:p.Leu312Val
NM_001102605.2:c.904C>G	NP_001096075.1:p.Leu302Val
NM_001142573.2:c.679C>G	NP_001136045.1:p.Leu227Val
NM_001142574.2:c.664C>G	NP_001136046.1:p.Leu222Val
NM_001142575.2:c.604C>G	NP_001136047.1:p.Leu202Val
NM_001142576.2:c.835C>G	NP_001136048.1:p.Leu279Val
NM_001304521.2:c.727C>G	NP_001291450.1:p.Leu243Val
NM_183243.3:c.826C>G	NP_899066.1:p.Leu276Val