Canonical Allele Identifier: CA369169020

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 931699
• ClinVar RCV Id: RCV001198547
• dbSNP Id: rs1798086782
• MyVariant Identifiers: chr7:g.128038574T>G (hg19) ; chr7:g.128398520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398520T>G , CM000669.2:g.128398520T>G	GRCh38
NC_000007.13:g.128038574T>G , CM000669.1:g.128038574T>G	GRCh37
NC_000007.12:g.127825810T>G	NCBI36
NG_009194.1:g.16463A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.860A>C	ENSP00000265385.8:p.Lys287Thr
ENST00000484496.6:n.843A>C
ENST00000338791.11:c.968A>C MANE Select	ENSP00000345096.6:p.Lys323Thr
ENST00000648462.1:c.600A>C
ENST00000338791.10:c.968A>C	ENSP00000345096.6:p.Lys323Thr
ENST00000348127.10:c.860A>C	ENSP00000265385.8:p.Lys287Thr
ENST00000354269.9:c.938A>C	ENSP00000346219.5:p.Lys313Thr
ENST00000419067.6:c.869A>C	ENSP00000399400.2:p.Lys290Thr
ENST00000468842.1:n.557A>C
ENST00000469328.5:c.733A>C
ENST00000470772.5:c.710A>C	ENSP00000417296.1:p.Lys237Thr
ENST00000480861.5:c.698A>C	ENSP00000420185.1:p.Lys233Thr
ENST00000484496.5:c.843A>C	ENSP00000418742.1:n.843A>C
ENST00000496200.5:c.638A>C	ENSP00000420803.1:p.Lys213Thr
ENST00000497868.5:c.761A>C	ENSP00000419609.1:p.Lys254Thr
ENST00000626419.2:c.710A>C	ENSP00000486056.1:p.Lys237Thr
NM_000883.3:c.968A>C	NP_000874.2:p.Lys323Thr
NM_001102605.1:c.938A>C	NP_001096075.1:p.Lys313Thr
NM_001142573.1:c.713A>C	NP_001136045.1:p.Lys238Thr
NM_001142574.1:c.698A>C	NP_001136046.1:p.Lys233Thr
NM_001142575.1:c.638A>C	NP_001136047.1:p.Lys213Thr
NM_001142576.1:c.869A>C	NP_001136048.1:p.Lys290Thr
NM_001304521.1:c.761A>C	NP_001291450.1:p.Lys254Thr
NM_183243.2:c.860A>C	NP_899066.1:p.Lys287Thr
XM_005250314.1:c.737A>C	XP_005250371.1:p.Lys246Thr
XM_006715967.1:c.968A>C	XP_006716030.1:p.Lys323Thr
XM_006715968.1:c.938A>C	XP_006716031.1:p.Lys313Thr
XM_006715969.1:c.860A>C	XP_006716032.1:p.Lys287Thr
XM_006715970.2:c.761A>C	XP_006716033.1:p.Lys254Thr
XM_006715971.1:c.737A>C	XP_006716034.1:p.Lys246Thr
XM_011516156.1:c.350A>C	XP_011514458.1:p.Lys117Thr
XM_011516157.1:c.350A>C	XP_011514459.1:p.Lys117Thr
XM_017012172.1:c.737A>C	XP_016867661.1:p.Lys246Thr
XM_017012173.1:c.938A>C	XP_016867662.1:p.Lys313Thr
XM_024446755.1:c.938A>C	XP_024302523.1:p.Lys313Thr
XM_024446756.1:c.860A>C	XP_024302524.1:p.Lys287Thr
XM_024446757.1:c.761A>C	XP_024302525.1:p.Lys254Thr
XM_024446758.1:c.737A>C	XP_024302526.1:p.Lys246Thr
NM_000883.4:c.968A>C MANE Select	NP_000874.2:p.Lys323Thr
NM_001102605.2:c.938A>C	NP_001096075.1:p.Lys313Thr
NM_001142573.2:c.713A>C	NP_001136045.1:p.Lys238Thr
NM_001142574.2:c.698A>C	NP_001136046.1:p.Lys233Thr
NM_001142575.2:c.638A>C	NP_001136047.1:p.Lys213Thr
NM_001142576.2:c.869A>C	NP_001136048.1:p.Lys290Thr
NM_001304521.2:c.761A>C	NP_001291450.1:p.Lys254Thr
NM_183243.3:c.860A>C	NP_899066.1:p.Lys287Thr