Canonical Allele Identifier: CA369174307

Gene: IMPDH1

Linked Data

• dbSNP Id: rs1478959537
• gnomAD v2: 7-128041076-G-A
• gnomAD v4: 7-128401022-G-A
• MyVariant Identifiers: chr7:g.128041076G>A (hg19) ; chr7:g.128401022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401022G>A , CM000669.2:g.128401022G>A	GRCh38
NC_000007.13:g.128041076G>A , CM000669.1:g.128041076G>A	GRCh37
NC_000007.12:g.127828312G>A	NCBI36
NG_009194.1:g.13961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.389C>T	ENSP00000265385.8:p.Ala130Val
ENST00000484496.6:n.353C>T
ENST00000338791.11:c.497C>T MANE Select	ENSP00000345096.6:p.Ala166Val
ENST00000648462.1:c.144C>T
ENST00000338791.10:c.497C>T	ENSP00000345096.6:p.Ala166Val
ENST00000348127.10:c.389C>T	ENSP00000265385.8:p.Ala130Val
ENST00000354269.9:c.467C>T	ENSP00000346219.5:p.Ala156Val
ENST00000419067.6:c.398C>T	ENSP00000399400.2:p.Ala133Val
ENST00000469328.5:c.243C>T
ENST00000470772.5:c.242C>T	ENSP00000417296.1:p.Ala81Val
ENST00000473463.1:c.*243C>T	ENSP00000420469.1:n.*243C>T
ENST00000480861.5:c.242C>T	ENSP00000420185.1:p.Ala81Val
ENST00000484496.5:c.353C>T	ENSP00000418742.1:p.Ala118Val
ENST00000489263.1:c.290C>T	ENSP00000418592.1:p.Ala97Val
ENST00000491376.5:n.666C>T
ENST00000496200.5:c.242C>T	ENSP00000420803.1:p.Ala81Val
ENST00000496487.5:n.317C>T
ENST00000497868.5:c.290C>T	ENSP00000419609.1:p.Ala97Val
ENST00000626419.2:c.242C>T	ENSP00000486056.1:p.Ala81Val
NM_000883.3:c.497C>T	NP_000874.2:p.Ala166Val
NM_001102605.1:c.467C>T	NP_001096075.1:p.Ala156Val
NM_001142573.1:c.242C>T	NP_001136045.1:p.Ala81Val
NM_001142574.1:c.242C>T	NP_001136046.1:p.Ala81Val
NM_001142575.1:c.242C>T	NP_001136047.1:p.Ala81Val
NM_001142576.1:c.398C>T	NP_001136048.1:p.Ala133Val
NM_001304521.1:c.290C>T	NP_001291450.1:p.Ala97Val
NM_183243.2:c.389C>T	NP_899066.1:p.Ala130Val
XM_005250314.1:c.266C>T	XP_005250371.1:p.Ala89Val
XM_006715967.1:c.497C>T	XP_006716030.1:p.Ala166Val
XM_006715968.1:c.467C>T	XP_006716031.1:p.Ala156Val
XM_006715969.1:c.389C>T	XP_006716032.1:p.Ala130Val
XM_006715970.2:c.290C>T	XP_006716033.1:p.Ala97Val
XM_006715971.1:c.266C>T	XP_006716034.1:p.Ala89Val
XM_017012172.1:c.266C>T	XP_016867661.1:p.Ala89Val
XM_017012173.1:c.467C>T	XP_016867662.1:p.Ala156Val
XM_024446755.1:c.467C>T	XP_024302523.1:p.Ala156Val
XM_024446756.1:c.389C>T	XP_024302524.1:p.Ala130Val
XM_024446757.1:c.290C>T	XP_024302525.1:p.Ala97Val
XM_024446758.1:c.266C>T	XP_024302526.1:p.Ala89Val
NM_000883.4:c.497C>T MANE Select	NP_000874.2:p.Ala166Val
NM_001102605.2:c.467C>T	NP_001096075.1:p.Ala156Val
NM_001142573.2:c.242C>T	NP_001136045.1:p.Ala81Val
NM_001142574.2:c.242C>T	NP_001136046.1:p.Ala81Val
NM_001142575.2:c.242C>T	NP_001136047.1:p.Ala81Val
NM_001142576.2:c.398C>T	NP_001136048.1:p.Ala133Val
NM_001304521.2:c.290C>T	NP_001291450.1:p.Ala97Val
NM_183243.3:c.389C>T	NP_899066.1:p.Ala130Val