Canonical Allele Identifier: CA245158

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 197169
• ClinVar RCV Id: RCV000178133 ; RCV000348403 ; RCV000395095
• dbSNP Id: rs547740249
• ExAC: 7:128045838 G / A
• gnomAD v2: 7-128045838-G-A
• gnomAD v3: 7-128405784-G-A
• gnomAD v4: 7-128405784-G-A
• MyVariant Identifiers: chr7:g.128045838G>A (hg19) ; chr7:g.128405784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128405784G>A , CM000669.2:g.128405784G>A	GRCh38
NC_000007.13:g.128045838G>A , CM000669.1:g.128045838G>A	GRCh37
NC_000007.12:g.127833074G>A	NCBI36
NG_009194.1:g.9199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.228C>T	ENSP00000265385.8:p.Ala76=
ENST00000484496.6:n.192C>T
ENST00000338791.11:c.336C>T MANE Select	ENSP00000345096.6:p.Ala112=
ENST00000338791.10:c.336C>T	ENSP00000345096.6:p.Ala112=
ENST00000348127.10:c.228C>T	ENSP00000265385.8:p.Ala76=
ENST00000354269.9:c.306C>T	ENSP00000346219.5:p.Ala102=
ENST00000419067.6:c.255-2030C>T	ENSP00000399400.2:n.255-2030C>T
ENST00000469328.5:c.82C>T
ENST00000470772.5:c.81C>T	ENSP00000417296.1:p.Ala27=
ENST00000473463.1:c.*82C>T	ENSP00000420469.1:n.*82C>T
ENST00000480861.5:c.81C>T	ENSP00000420185.1:p.Ala27=
ENST00000484496.5:c.192C>T	ENSP00000418742.1:p.Ala64=
ENST00000489263.1:c.147-2030C>T	ENSP00000418592.1:n.147-2030C>T
ENST00000491376.5:n.505C>T
ENST00000496200.5:c.81C>T	ENSP00000420803.1:p.Ala27=
ENST00000496487.5:n.156C>T
ENST00000497868.5:c.147-2030C>T	ENSP00000419609.1:n.147-2030C>T
ENST00000626419.2:c.81C>T	ENSP00000486056.1:p.Ala27=
NM_000883.3:c.336C>T	NP_000874.2:p.Ala112=
NM_001102605.1:c.306C>T	NP_001096075.1:p.Ala102=
NM_001142573.1:c.81C>T	NP_001136045.1:p.Ala27=
NM_001142574.1:c.81C>T	NP_001136046.1:p.Ala27=
NM_001142575.1:c.81C>T	NP_001136047.1:p.Ala27=
NM_001142576.1:c.255-2030C>T	NP_001136048.1:n.255-2030C>T
NM_001304521.1:c.147-2030C>T	NP_001291450.1:n.147-2030C>T
NM_183243.2:c.228C>T	NP_899066.1:p.Ala76=
XM_005250314.1:c.105C>T	XP_005250371.1:p.Ala35=
XM_006715967.1:c.336C>T	XP_006716030.1:p.Ala112=
XM_006715968.1:c.306C>T	XP_006716031.1:p.Ala102=
XM_006715969.1:c.228C>T	XP_006716032.1:p.Ala76=
XM_006715970.2:c.147-2030C>T	XP_006716033.1:n.147-2030C>T
XM_006715971.1:c.105C>T	XP_006716034.1:p.Ala35=
XM_017012172.1:c.105C>T	XP_016867661.1:p.Ala35=
XM_017012173.1:c.306C>T	XP_016867662.1:p.Ala102=
XM_024446755.1:c.306C>T	XP_024302523.1:p.Ala102=
XM_024446756.1:c.228C>T	XP_024302524.1:p.Ala76=
XM_024446757.1:c.147-2030C>T	XP_024302525.1:n.147-2030C>T
XM_024446758.1:c.105C>T	XP_024302526.1:p.Ala35=
NM_000883.4:c.336C>T MANE Select	NP_000874.2:p.Ala112=
NM_001102605.2:c.306C>T	NP_001096075.1:p.Ala102=
NM_001142573.2:c.81C>T	NP_001136045.1:p.Ala27=
NM_001142574.2:c.81C>T	NP_001136046.1:p.Ala27=
NM_001142575.2:c.81C>T	NP_001136047.1:p.Ala27=
NM_001142576.2:c.255-2030C>T	NP_001136048.1:n.255-2030C>T
NM_001304521.2:c.147-2030C>T	NP_001291450.1:n.147-2030C>T
NM_183243.3:c.228C>T	NP_899066.1:p.Ala76=