Canonical Allele Identifier: CA369167963

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 1026578
• ClinVar RCV Id: RCV001327046
• dbSNP Id: rs748397513
• gnomAD v3: 7-128398436-G-T
• gnomAD v4: 7-128398436-G-T
• MyVariant Identifiers: chr7:g.128038490G>T (hg19) ; chr7:g.128398436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398436G>T , CM000669.2:g.128398436G>T	GRCh38
NC_000007.13:g.128038490G>T , CM000669.1:g.128038490G>T	GRCh37
NC_000007.12:g.127825726G>T	NCBI36
NG_009194.1:g.16547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.944C>A	ENSP00000265385.8:p.Ala315Glu
ENST00000484496.6:n.927C>A
ENST00000338791.11:c.1052C>A MANE Select	ENSP00000345096.6:p.Ala351Glu
ENST00000648462.1:c.684C>A
ENST00000338791.10:c.1052C>A	ENSP00000345096.6:p.Ala351Glu
ENST00000348127.10:c.944C>A	ENSP00000265385.8:p.Ala315Glu
ENST00000354269.9:c.1022C>A	ENSP00000346219.5:p.Ala341Glu
ENST00000419067.6:c.953C>A	ENSP00000399400.2:p.Ala318Glu
ENST00000469328.5:c.817C>A
ENST00000470772.5:c.794C>A	ENSP00000417296.1:p.Ala265Glu
ENST00000480861.5:c.782C>A	ENSP00000420185.1:p.Ala261Glu
ENST00000484496.5:c.927C>A	ENSP00000418742.1:n.927C>A
ENST00000496200.5:c.722C>A	ENSP00000420803.1:p.Ala241Glu
ENST00000497868.5:c.845C>A	ENSP00000419609.1:p.Ala282Glu
ENST00000626419.2:c.794C>A	ENSP00000486056.1:p.Ala265Glu
NM_000883.3:c.1052C>A	NP_000874.2:p.Ala351Glu
NM_001102605.1:c.1022C>A	NP_001096075.1:p.Ala341Glu
NM_001142573.1:c.797C>A	NP_001136045.1:p.Ala266Glu
NM_001142574.1:c.782C>A	NP_001136046.1:p.Ala261Glu
NM_001142575.1:c.722C>A	NP_001136047.1:p.Ala241Glu
NM_001142576.1:c.953C>A	NP_001136048.1:p.Ala318Glu
NM_001304521.1:c.845C>A	NP_001291450.1:p.Ala282Glu
NM_183243.2:c.944C>A	NP_899066.1:p.Ala315Glu
XM_005250314.1:c.821C>A	XP_005250371.1:p.Ala274Glu
XM_006715967.1:c.1052C>A	XP_006716030.1:p.Ala351Glu
XM_006715968.1:c.1022C>A	XP_006716031.1:p.Ala341Glu
XM_006715969.1:c.944C>A	XP_006716032.1:p.Ala315Glu
XM_006715970.2:c.845C>A	XP_006716033.1:p.Ala282Glu
XM_006715971.1:c.821C>A	XP_006716034.1:p.Ala274Glu
XM_011516156.1:c.434C>A	XP_011514458.1:p.Ala145Glu
XM_011516157.1:c.434C>A	XP_011514459.1:p.Ala145Glu
XM_017012172.1:c.821C>A	XP_016867661.1:p.Ala274Glu
XM_017012173.1:c.1022C>A	XP_016867662.1:p.Ala341Glu
XM_024446755.1:c.1022C>A	XP_024302523.1:p.Ala341Glu
XM_024446756.1:c.944C>A	XP_024302524.1:p.Ala315Glu
XM_024446757.1:c.845C>A	XP_024302525.1:p.Ala282Glu
XM_024446758.1:c.821C>A	XP_024302526.1:p.Ala274Glu
NM_000883.4:c.1052C>A MANE Select	NP_000874.2:p.Ala351Glu
NM_001102605.2:c.1022C>A	NP_001096075.1:p.Ala341Glu
NM_001142573.2:c.797C>A	NP_001136045.1:p.Ala266Glu
NM_001142574.2:c.782C>A	NP_001136046.1:p.Ala261Glu
NM_001142575.2:c.722C>A	NP_001136047.1:p.Ala241Glu
NM_001142576.2:c.953C>A	NP_001136048.1:p.Ala318Glu
NM_001304521.2:c.845C>A	NP_001291450.1:p.Ala282Glu
NM_183243.3:c.944C>A	NP_899066.1:p.Ala315Glu