Canonical Allele Identifier: CA369169047

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 618691
• ClinVar RCV Id: RCV000757408 ; RCV001074587
• dbSNP Id: rs1562989913
• MyVariant Identifiers: chr7:g.128038575T>C (hg19) ; chr7:g.128398521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398521T>C , CM000669.2:g.128398521T>C	GRCh38
NC_000007.13:g.128038575T>C , CM000669.1:g.128038575T>C	GRCh37
NC_000007.12:g.127825811T>C	NCBI36
NG_009194.1:g.16462A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.859A>G	ENSP00000265385.8:p.Lys287Glu
ENST00000484496.6:n.842A>G
ENST00000338791.11:c.967A>G MANE Select	ENSP00000345096.6:p.Lys323Glu
ENST00000648462.1:c.599A>G
ENST00000338791.10:c.967A>G	ENSP00000345096.6:p.Lys323Glu
ENST00000348127.10:c.859A>G	ENSP00000265385.8:p.Lys287Glu
ENST00000354269.9:c.937A>G	ENSP00000346219.5:p.Lys313Glu
ENST00000419067.6:c.868A>G	ENSP00000399400.2:p.Lys290Glu
ENST00000468842.1:n.556A>G
ENST00000469328.5:c.732A>G
ENST00000470772.5:c.709A>G	ENSP00000417296.1:p.Lys237Glu
ENST00000480861.5:c.697A>G	ENSP00000420185.1:p.Lys233Glu
ENST00000484496.5:c.842A>G	ENSP00000418742.1:n.842A>G
ENST00000496200.5:c.637A>G	ENSP00000420803.1:p.Lys213Glu
ENST00000497868.5:c.760A>G	ENSP00000419609.1:p.Lys254Glu
ENST00000626419.2:c.709A>G	ENSP00000486056.1:p.Lys237Glu
NM_000883.3:c.967A>G	NP_000874.2:p.Lys323Glu
NM_001102605.1:c.937A>G	NP_001096075.1:p.Lys313Glu
NM_001142573.1:c.712A>G	NP_001136045.1:p.Lys238Glu
NM_001142574.1:c.697A>G	NP_001136046.1:p.Lys233Glu
NM_001142575.1:c.637A>G	NP_001136047.1:p.Lys213Glu
NM_001142576.1:c.868A>G	NP_001136048.1:p.Lys290Glu
NM_001304521.1:c.760A>G	NP_001291450.1:p.Lys254Glu
NM_183243.2:c.859A>G	NP_899066.1:p.Lys287Glu
XM_005250314.1:c.736A>G	XP_005250371.1:p.Lys246Glu
XM_006715967.1:c.967A>G	XP_006716030.1:p.Lys323Glu
XM_006715968.1:c.937A>G	XP_006716031.1:p.Lys313Glu
XM_006715969.1:c.859A>G	XP_006716032.1:p.Lys287Glu
XM_006715970.2:c.760A>G	XP_006716033.1:p.Lys254Glu
XM_006715971.1:c.736A>G	XP_006716034.1:p.Lys246Glu
XM_011516156.1:c.349A>G	XP_011514458.1:p.Lys117Glu
XM_011516157.1:c.349A>G	XP_011514459.1:p.Lys117Glu
XM_017012172.1:c.736A>G	XP_016867661.1:p.Lys246Glu
XM_017012173.1:c.937A>G	XP_016867662.1:p.Lys313Glu
XM_024446755.1:c.937A>G	XP_024302523.1:p.Lys313Glu
XM_024446756.1:c.859A>G	XP_024302524.1:p.Lys287Glu
XM_024446757.1:c.760A>G	XP_024302525.1:p.Lys254Glu
XM_024446758.1:c.736A>G	XP_024302526.1:p.Lys246Glu
NM_000883.4:c.967A>G MANE Select	NP_000874.2:p.Lys323Glu
NM_001102605.2:c.937A>G	NP_001096075.1:p.Lys313Glu
NM_001142573.2:c.712A>G	NP_001136045.1:p.Lys238Glu
NM_001142574.2:c.697A>G	NP_001136046.1:p.Lys233Glu
NM_001142575.2:c.637A>G	NP_001136047.1:p.Lys213Glu
NM_001142576.2:c.868A>G	NP_001136048.1:p.Lys290Glu
NM_001304521.2:c.760A>G	NP_001291450.1:p.Lys254Glu
NM_183243.3:c.859A>G	NP_899066.1:p.Lys287Glu