Canonical Allele Identifier: CA369174102

Gene: IMPDH1

Linked Data

• gnomAD v4: 7-128400834-C-T
• COSMIC: COSM2768908
• MyVariant Identifiers: chr7:g.128040888C>T (hg19) ; chr7:g.128400834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128400834C>T , CM000669.2:g.128400834C>T	GRCh38
NC_000007.13:g.128040888C>T , CM000669.1:g.128040888C>T	GRCh37
NC_000007.12:g.127828124C>T	NCBI36
NG_009194.1:g.14149G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.454G>A	ENSP00000265385.8:p.Glu152Lys
ENST00000484496.6:n.418G>A
ENST00000338791.11:c.562G>A MANE Select	ENSP00000345096.6:p.Glu188Lys
ENST00000648462.1:c.209G>A
ENST00000338791.10:c.562G>A	ENSP00000345096.6:p.Glu188Lys
ENST00000348127.10:c.454G>A	ENSP00000265385.8:p.Glu152Lys
ENST00000354269.9:c.532G>A	ENSP00000346219.5:p.Glu178Lys
ENST00000419067.6:c.463G>A	ENSP00000399400.2:p.Glu155Lys
ENST00000469328.5:c.308G>A
ENST00000470772.5:c.307G>A	ENSP00000417296.1:p.Glu103Lys
ENST00000480861.5:c.307G>A	ENSP00000420185.1:p.Glu103Lys
ENST00000484496.5:c.418G>A	ENSP00000418742.1:p.Glu140Lys
ENST00000489263.1:c.297+181G>A	ENSP00000418592.1:n.297+181G>A
ENST00000491376.5:n.731G>A
ENST00000496200.5:c.249+181G>A	ENSP00000420803.1:n.249+181G>A
ENST00000496487.5:n.382G>A
ENST00000497868.5:c.355G>A	ENSP00000419609.1:p.Glu119Lys
ENST00000626419.2:c.307G>A	ENSP00000486056.1:p.Glu103Lys
NM_000883.3:c.562G>A	NP_000874.2:p.Glu188Lys
NM_001102605.1:c.532G>A	NP_001096075.1:p.Glu178Lys
NM_001142573.1:c.307G>A	NP_001136045.1:p.Glu103Lys
NM_001142574.1:c.307G>A	NP_001136046.1:p.Glu103Lys
NM_001142575.1:c.249+181G>A	NP_001136047.1:n.249+181G>A
NM_001142576.1:c.463G>A	NP_001136048.1:p.Glu155Lys
NM_001304521.1:c.355G>A	NP_001291450.1:p.Glu119Lys
NM_183243.2:c.454G>A	NP_899066.1:p.Glu152Lys
XM_005250314.1:c.331G>A	XP_005250371.1:p.Glu111Lys
XM_006715967.1:c.562G>A	XP_006716030.1:p.Glu188Lys
XM_006715968.1:c.532G>A	XP_006716031.1:p.Glu178Lys
XM_006715969.1:c.454G>A	XP_006716032.1:p.Glu152Lys
XM_006715970.2:c.355G>A	XP_006716033.1:p.Glu119Lys
XM_006715971.1:c.331G>A	XP_006716034.1:p.Glu111Lys
XM_017012172.1:c.331G>A	XP_016867661.1:p.Glu111Lys
XM_017012173.1:c.532G>A	XP_016867662.1:p.Glu178Lys
XM_024446755.1:c.532G>A	XP_024302523.1:p.Glu178Lys
XM_024446756.1:c.454G>A	XP_024302524.1:p.Glu152Lys
XM_024446757.1:c.355G>A	XP_024302525.1:p.Glu119Lys
XM_024446758.1:c.331G>A	XP_024302526.1:p.Glu111Lys
NM_000883.4:c.562G>A MANE Select	NP_000874.2:p.Glu188Lys
NM_001102605.2:c.532G>A	NP_001096075.1:p.Glu178Lys
NM_001142573.2:c.307G>A	NP_001136045.1:p.Glu103Lys
NM_001142574.2:c.307G>A	NP_001136046.1:p.Glu103Lys
NM_001142575.2:c.249+181G>A	NP_001136047.1:n.249+181G>A
NM_001142576.2:c.463G>A	NP_001136048.1:p.Glu155Lys
NM_001304521.2:c.355G>A	NP_001291450.1:p.Glu119Lys
NM_183243.3:c.454G>A	NP_899066.1:p.Glu152Lys