Canonical Allele Identifier: CA369174090

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128040884A>G (hg19) ; chr7:g.128400830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128400830A>G , CM000669.2:g.128400830A>G	GRCh38
NC_000007.13:g.128040884A>G , CM000669.1:g.128040884A>G	GRCh37
NC_000007.12:g.127828120A>G	NCBI36
NG_009194.1:g.14153T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.458T>C	ENSP00000265385.8:p.Val153Ala
ENST00000484496.6:n.422T>C
ENST00000338791.11:c.566T>C MANE Select	ENSP00000345096.6:p.Val189Ala
ENST00000648462.1:c.211+2T>C
ENST00000338791.10:c.566T>C	ENSP00000345096.6:p.Val189Ala
ENST00000348127.10:c.458T>C	ENSP00000265385.8:p.Val153Ala
ENST00000354269.9:c.536T>C	ENSP00000346219.5:p.Val179Ala
ENST00000419067.6:c.467T>C	ENSP00000399400.2:p.Val156Ala
ENST00000469328.5:c.312T>C
ENST00000470772.5:c.311T>C	ENSP00000417296.1:p.Val104Ala
ENST00000480861.5:c.309+2T>C	ENSP00000420185.1:n.309+2T>C
ENST00000484496.5:c.422T>C	ENSP00000418742.1:p.Val141Ala
ENST00000489263.1:c.297+185T>C	ENSP00000418592.1:n.297+185T>C
ENST00000491376.5:n.735T>C
ENST00000496200.5:c.249+185T>C	ENSP00000420803.1:n.249+185T>C
ENST00000496487.5:n.386T>C
ENST00000497868.5:c.359T>C	ENSP00000419609.1:p.Val120Ala
ENST00000626419.2:c.311T>C	ENSP00000486056.1:p.Val104Ala
NM_000883.3:c.566T>C	NP_000874.2:p.Val189Ala
NM_001102605.1:c.536T>C	NP_001096075.1:p.Val179Ala
NM_001142573.1:c.311T>C	NP_001136045.1:p.Val104Ala
NM_001142574.1:c.309+2T>C	NP_001136046.1:n.309+2T>C
NM_001142575.1:c.249+185T>C	NP_001136047.1:n.249+185T>C
NM_001142576.1:c.467T>C	NP_001136048.1:p.Val156Ala
NM_001304521.1:c.359T>C	NP_001291450.1:p.Val120Ala
NM_183243.2:c.458T>C	NP_899066.1:p.Val153Ala
XM_005250314.1:c.335T>C	XP_005250371.1:p.Val112Ala
XM_006715967.1:c.566T>C	XP_006716030.1:p.Val189Ala
XM_006715968.1:c.536T>C	XP_006716031.1:p.Val179Ala
XM_006715969.1:c.458T>C	XP_006716032.1:p.Val153Ala
XM_006715970.2:c.359T>C	XP_006716033.1:p.Val120Ala
XM_006715971.1:c.335T>C	XP_006716034.1:p.Val112Ala
XM_017012172.1:c.335T>C	XP_016867661.1:p.Val112Ala
XM_017012173.1:c.536T>C	XP_016867662.1:p.Val179Ala
XM_024446755.1:c.536T>C	XP_024302523.1:p.Val179Ala
XM_024446756.1:c.458T>C	XP_024302524.1:p.Val153Ala
XM_024446757.1:c.359T>C	XP_024302525.1:p.Val120Ala
XM_024446758.1:c.335T>C	XP_024302526.1:p.Val112Ala
NM_000883.4:c.566T>C MANE Select	NP_000874.2:p.Val189Ala
NM_001102605.2:c.536T>C	NP_001096075.1:p.Val179Ala
NM_001142573.2:c.311T>C	NP_001136045.1:p.Val104Ala
NM_001142574.2:c.309+2T>C	NP_001136046.1:n.309+2T>C
NM_001142575.2:c.249+185T>C	NP_001136047.1:n.249+185T>C
NM_001142576.2:c.467T>C	NP_001136048.1:p.Val156Ala
NM_001304521.2:c.359T>C	NP_001291450.1:p.Val120Ala
NM_183243.3:c.458T>C	NP_899066.1:p.Val153Ala