Canonical Allele Identifier: CA4470985

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 2335988
• ClinVar RCV Id: RCV002921849 ; RCV003561123
• dbSNP Id: rs368190649
• ExAC: 7:128038617 G / A
• gnomAD v2: 7-128038617-G-A
• gnomAD v3: 7-128398563-G-A
• gnomAD v4: 7-128398563-G-A
• MyVariant Identifiers: chr7:g.128038617G>A (hg19) ; chr7:g.128398563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398563G>A , CM000669.2:g.128398563G>A	GRCh38
NC_000007.13:g.128038617G>A , CM000669.1:g.128038617G>A	GRCh37
NC_000007.12:g.127825853G>A	NCBI36
NG_009194.1:g.16420C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.817C>T	ENSP00000265385.8:p.Arg273Cys
ENST00000484496.6:n.800C>T
ENST00000338791.11:c.925C>T MANE Select	ENSP00000345096.6:p.Arg309Cys
ENST00000648462.1:c.557C>T
ENST00000338791.10:c.925C>T	ENSP00000345096.6:p.Arg309Cys
ENST00000348127.10:c.817C>T	ENSP00000265385.8:p.Arg273Cys
ENST00000354269.9:c.895C>T	ENSP00000346219.5:p.Arg299Cys
ENST00000419067.6:c.826C>T	ENSP00000399400.2:p.Arg276Cys
ENST00000468842.1:n.514C>T
ENST00000469328.5:c.690C>T
ENST00000470772.5:c.667C>T	ENSP00000417296.1:p.Arg223Cys
ENST00000480861.5:c.655C>T	ENSP00000420185.1:p.Arg219Cys
ENST00000484496.5:c.800C>T	ENSP00000418742.1:n.800C>T
ENST00000496200.5:c.595C>T	ENSP00000420803.1:p.Arg199Cys
ENST00000497868.5:c.718C>T	ENSP00000419609.1:p.Arg240Cys
ENST00000626419.2:c.667C>T	ENSP00000486056.1:p.Arg223Cys
NM_000883.3:c.925C>T	NP_000874.2:p.Arg309Cys
NM_001102605.1:c.895C>T	NP_001096075.1:p.Arg299Cys
NM_001142573.1:c.670C>T	NP_001136045.1:p.Arg224Cys
NM_001142574.1:c.655C>T	NP_001136046.1:p.Arg219Cys
NM_001142575.1:c.595C>T	NP_001136047.1:p.Arg199Cys
NM_001142576.1:c.826C>T	NP_001136048.1:p.Arg276Cys
NM_001304521.1:c.718C>T	NP_001291450.1:p.Arg240Cys
NM_183243.2:c.817C>T	NP_899066.1:p.Arg273Cys
XM_005250314.1:c.694C>T	XP_005250371.1:p.Arg232Cys
XM_006715967.1:c.925C>T	XP_006716030.1:p.Arg309Cys
XM_006715968.1:c.895C>T	XP_006716031.1:p.Arg299Cys
XM_006715969.1:c.817C>T	XP_006716032.1:p.Arg273Cys
XM_006715970.2:c.718C>T	XP_006716033.1:p.Arg240Cys
XM_006715971.1:c.694C>T	XP_006716034.1:p.Arg232Cys
XM_011516156.1:c.307C>T	XP_011514458.1:p.Arg103Cys
XM_011516157.1:c.307C>T	XP_011514459.1:p.Arg103Cys
XM_017012172.1:c.694C>T	XP_016867661.1:p.Arg232Cys
XM_017012173.1:c.895C>T	XP_016867662.1:p.Arg299Cys
XM_024446755.1:c.895C>T	XP_024302523.1:p.Arg299Cys
XM_024446756.1:c.817C>T	XP_024302524.1:p.Arg273Cys
XM_024446757.1:c.718C>T	XP_024302525.1:p.Arg240Cys
XM_024446758.1:c.694C>T	XP_024302526.1:p.Arg232Cys
NM_000883.4:c.925C>T MANE Select	NP_000874.2:p.Arg309Cys
NM_001102605.2:c.895C>T	NP_001096075.1:p.Arg299Cys
NM_001142573.2:c.670C>T	NP_001136045.1:p.Arg224Cys
NM_001142574.2:c.655C>T	NP_001136046.1:p.Arg219Cys
NM_001142575.2:c.595C>T	NP_001136047.1:p.Arg199Cys
NM_001142576.2:c.826C>T	NP_001136048.1:p.Arg276Cys
NM_001304521.2:c.718C>T	NP_001291450.1:p.Arg240Cys
NM_183243.3:c.817C>T	NP_899066.1:p.Arg273Cys