Canonical Allele Identifier: CA257385

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 14836
• ClinVar RCV Id: RCV000015961 ; RCV003887872
• dbSNP Id: rs121912552
• MyVariant Identifiers: chr7:g.128038616C>G (hg19) ; chr7:g.128398562C>G (hg38)
• PubMed: PMID:11875049

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398562C>G , CM000669.2:g.128398562C>G	GRCh38
NC_000007.13:g.128038616C>G , CM000669.1:g.128038616C>G	GRCh37
NC_000007.12:g.127825852C>G	NCBI36
NG_009194.1:g.16421G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.818G>C	ENSP00000265385.8:p.Arg273Pro
ENST00000484496.6:n.801G>C
ENST00000338791.11:c.926G>C MANE Select	ENSP00000345096.6:p.Arg309Pro
ENST00000648462.1:c.558G>C
ENST00000338791.10:c.926G>C	ENSP00000345096.6:p.Arg309Pro
ENST00000348127.10:c.818G>C	ENSP00000265385.8:p.Arg273Pro
ENST00000354269.9:c.896G>C	ENSP00000346219.5:p.Arg299Pro
ENST00000419067.6:c.827G>C	ENSP00000399400.2:p.Arg276Pro
ENST00000468842.1:n.515G>C
ENST00000469328.5:c.691G>C
ENST00000470772.5:c.668G>C	ENSP00000417296.1:p.Arg223Pro
ENST00000480861.5:c.656G>C	ENSP00000420185.1:p.Arg219Pro
ENST00000484496.5:c.801G>C	ENSP00000418742.1:n.801G>C
ENST00000496200.5:c.596G>C	ENSP00000420803.1:p.Arg199Pro
ENST00000497868.5:c.719G>C	ENSP00000419609.1:p.Arg240Pro
ENST00000626419.2:c.668G>C	ENSP00000486056.1:p.Arg223Pro
NM_000883.3:c.926G>C	NP_000874.2:p.Arg309Pro
NM_001102605.1:c.896G>C	NP_001096075.1:p.Arg299Pro
NM_001142573.1:c.671G>C	NP_001136045.1:p.Arg224Pro
NM_001142574.1:c.656G>C	NP_001136046.1:p.Arg219Pro
NM_001142575.1:c.596G>C	NP_001136047.1:p.Arg199Pro
NM_001142576.1:c.827G>C	NP_001136048.1:p.Arg276Pro
NM_001304521.1:c.719G>C	NP_001291450.1:p.Arg240Pro
NM_183243.2:c.818G>C	NP_899066.1:p.Arg273Pro
XM_005250314.1:c.695G>C	XP_005250371.1:p.Arg232Pro
XM_006715967.1:c.926G>C	XP_006716030.1:p.Arg309Pro
XM_006715968.1:c.896G>C	XP_006716031.1:p.Arg299Pro
XM_006715969.1:c.818G>C	XP_006716032.1:p.Arg273Pro
XM_006715970.2:c.719G>C	XP_006716033.1:p.Arg240Pro
XM_006715971.1:c.695G>C	XP_006716034.1:p.Arg232Pro
XM_011516156.1:c.308G>C	XP_011514458.1:p.Arg103Pro
XM_011516157.1:c.308G>C	XP_011514459.1:p.Arg103Pro
XM_017012172.1:c.695G>C	XP_016867661.1:p.Arg232Pro
XM_017012173.1:c.896G>C	XP_016867662.1:p.Arg299Pro
XM_024446755.1:c.896G>C	XP_024302523.1:p.Arg299Pro
XM_024446756.1:c.818G>C	XP_024302524.1:p.Arg273Pro
XM_024446757.1:c.719G>C	XP_024302525.1:p.Arg240Pro
XM_024446758.1:c.695G>C	XP_024302526.1:p.Arg232Pro
NM_000883.4:c.926G>C MANE Select	NP_000874.2:p.Arg309Pro
NM_001102605.2:c.896G>C	NP_001096075.1:p.Arg299Pro
NM_001142573.2:c.671G>C	NP_001136045.1:p.Arg224Pro
NM_001142574.2:c.656G>C	NP_001136046.1:p.Arg219Pro
NM_001142575.2:c.596G>C	NP_001136047.1:p.Arg199Pro
NM_001142576.2:c.827G>C	NP_001136048.1:p.Arg276Pro
NM_001304521.2:c.719G>C	NP_001291450.1:p.Arg240Pro
NM_183243.3:c.818G>C	NP_899066.1:p.Arg273Pro