Canonical Allele Identifier: CA4470977

Gene: IMPDH1

Linked Data

• dbSNP Id: rs761020434
• ExAC: 7:128038529 C / A
• gnomAD v2: 7-128038529-C-A
• gnomAD v4: 7-128398475-C-A
• MyVariant Identifiers: chr7:g.128038529C>A (hg19) ; chr7:g.128398475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398475C>A , CM000669.2:g.128398475C>A	GRCh38
NC_000007.13:g.128038529C>A , CM000669.1:g.128038529C>A	GRCh37
NC_000007.12:g.127825765C>A	NCBI36
NG_009194.1:g.16508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.905G>T	ENSP00000265385.8:p.Arg302Leu
ENST00000484496.6:n.888G>T
ENST00000338791.11:c.1013G>T MANE Select	ENSP00000345096.6:p.Arg338Leu
ENST00000648462.1:c.645G>T
ENST00000338791.10:c.1013G>T	ENSP00000345096.6:p.Arg338Leu
ENST00000348127.10:c.905G>T	ENSP00000265385.8:p.Arg302Leu
ENST00000354269.9:c.983G>T	ENSP00000346219.5:p.Arg328Leu
ENST00000419067.6:c.914G>T	ENSP00000399400.2:p.Arg305Leu
ENST00000469328.5:c.778G>T
ENST00000470772.5:c.755G>T	ENSP00000417296.1:p.Arg252Leu
ENST00000480861.5:c.743G>T	ENSP00000420185.1:p.Arg248Leu
ENST00000484496.5:c.888G>T	ENSP00000418742.1:n.888G>T
ENST00000496200.5:c.683G>T	ENSP00000420803.1:p.Arg228Leu
ENST00000497868.5:c.806G>T	ENSP00000419609.1:p.Arg269Leu
ENST00000626419.2:c.755G>T	ENSP00000486056.1:p.Arg252Leu
NM_000883.3:c.1013G>T	NP_000874.2:p.Arg338Leu
NM_001102605.1:c.983G>T	NP_001096075.1:p.Arg328Leu
NM_001142573.1:c.758G>T	NP_001136045.1:p.Arg253Leu
NM_001142574.1:c.743G>T	NP_001136046.1:p.Arg248Leu
NM_001142575.1:c.683G>T	NP_001136047.1:p.Arg228Leu
NM_001142576.1:c.914G>T	NP_001136048.1:p.Arg305Leu
NM_001304521.1:c.806G>T	NP_001291450.1:p.Arg269Leu
NM_183243.2:c.905G>T	NP_899066.1:p.Arg302Leu
XM_005250314.1:c.782G>T	XP_005250371.1:p.Arg261Leu
XM_006715967.1:c.1013G>T	XP_006716030.1:p.Arg338Leu
XM_006715968.1:c.983G>T	XP_006716031.1:p.Arg328Leu
XM_006715969.1:c.905G>T	XP_006716032.1:p.Arg302Leu
XM_006715970.2:c.806G>T	XP_006716033.1:p.Arg269Leu
XM_006715971.1:c.782G>T	XP_006716034.1:p.Arg261Leu
XM_011516156.1:c.395G>T	XP_011514458.1:p.Arg132Leu
XM_011516157.1:c.395G>T	XP_011514459.1:p.Arg132Leu
XM_017012172.1:c.782G>T	XP_016867661.1:p.Arg261Leu
XM_017012173.1:c.983G>T	XP_016867662.1:p.Arg328Leu
XM_024446755.1:c.983G>T	XP_024302523.1:p.Arg328Leu
XM_024446756.1:c.905G>T	XP_024302524.1:p.Arg302Leu
XM_024446757.1:c.806G>T	XP_024302525.1:p.Arg269Leu
XM_024446758.1:c.782G>T	XP_024302526.1:p.Arg261Leu
NM_000883.4:c.1013G>T MANE Select	NP_000874.2:p.Arg338Leu
NM_001102605.2:c.983G>T	NP_001096075.1:p.Arg328Leu
NM_001142573.2:c.758G>T	NP_001136045.1:p.Arg253Leu
NM_001142574.2:c.743G>T	NP_001136046.1:p.Arg248Leu
NM_001142575.2:c.683G>T	NP_001136047.1:p.Arg228Leu
NM_001142576.2:c.914G>T	NP_001136048.1:p.Arg305Leu
NM_001304521.2:c.806G>T	NP_001291450.1:p.Arg269Leu
NM_183243.3:c.905G>T	NP_899066.1:p.Arg302Leu