Canonical Allele Identifier: CA369174106

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128040890T>A (hg19) ; chr7:g.128400836T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128400836T>A , CM000669.2:g.128400836T>A	GRCh38
NC_000007.13:g.128040890T>A , CM000669.1:g.128040890T>A	GRCh37
NC_000007.12:g.127828126T>A	NCBI36
NG_009194.1:g.14147A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.452A>T	ENSP00000265385.8:p.Asn151Ile
ENST00000484496.6:n.416A>T
ENST00000338791.11:c.560A>T MANE Select	ENSP00000345096.6:p.Asn187Ile
ENST00000648462.1:c.207A>T
ENST00000338791.10:c.560A>T	ENSP00000345096.6:p.Asn187Ile
ENST00000348127.10:c.452A>T	ENSP00000265385.8:p.Asn151Ile
ENST00000354269.9:c.530A>T	ENSP00000346219.5:p.Asn177Ile
ENST00000419067.6:c.461A>T	ENSP00000399400.2:p.Asn154Ile
ENST00000469328.5:c.306A>T
ENST00000470772.5:c.305A>T	ENSP00000417296.1:p.Asn102Ile
ENST00000480861.5:c.305A>T	ENSP00000420185.1:p.Asn102Ile
ENST00000484496.5:c.416A>T	ENSP00000418742.1:p.Asn139Ile
ENST00000489263.1:c.297+179A>T	ENSP00000418592.1:n.297+179A>T
ENST00000491376.5:n.729A>T
ENST00000496200.5:c.249+179A>T	ENSP00000420803.1:n.249+179A>T
ENST00000496487.5:n.380A>T
ENST00000497868.5:c.353A>T	ENSP00000419609.1:p.Asn118Ile
ENST00000626419.2:c.305A>T	ENSP00000486056.1:p.Asn102Ile
NM_000883.3:c.560A>T	NP_000874.2:p.Asn187Ile
NM_001102605.1:c.530A>T	NP_001096075.1:p.Asn177Ile
NM_001142573.1:c.305A>T	NP_001136045.1:p.Asn102Ile
NM_001142574.1:c.305A>T	NP_001136046.1:p.Asn102Ile
NM_001142575.1:c.249+179A>T	NP_001136047.1:n.249+179A>T
NM_001142576.1:c.461A>T	NP_001136048.1:p.Asn154Ile
NM_001304521.1:c.353A>T	NP_001291450.1:p.Asn118Ile
NM_183243.2:c.452A>T	NP_899066.1:p.Asn151Ile
XM_005250314.1:c.329A>T	XP_005250371.1:p.Asn110Ile
XM_006715967.1:c.560A>T	XP_006716030.1:p.Asn187Ile
XM_006715968.1:c.530A>T	XP_006716031.1:p.Asn177Ile
XM_006715969.1:c.452A>T	XP_006716032.1:p.Asn151Ile
XM_006715970.2:c.353A>T	XP_006716033.1:p.Asn118Ile
XM_006715971.1:c.329A>T	XP_006716034.1:p.Asn110Ile
XM_017012172.1:c.329A>T	XP_016867661.1:p.Asn110Ile
XM_017012173.1:c.530A>T	XP_016867662.1:p.Asn177Ile
XM_024446755.1:c.530A>T	XP_024302523.1:p.Asn177Ile
XM_024446756.1:c.452A>T	XP_024302524.1:p.Asn151Ile
XM_024446757.1:c.353A>T	XP_024302525.1:p.Asn118Ile
XM_024446758.1:c.329A>T	XP_024302526.1:p.Asn110Ile
NM_000883.4:c.560A>T MANE Select	NP_000874.2:p.Asn187Ile
NM_001102605.2:c.530A>T	NP_001096075.1:p.Asn177Ile
NM_001142573.2:c.305A>T	NP_001136045.1:p.Asn102Ile
NM_001142574.2:c.305A>T	NP_001136046.1:p.Asn102Ile
NM_001142575.2:c.249+179A>T	NP_001136047.1:n.249+179A>T
NM_001142576.2:c.461A>T	NP_001136048.1:p.Asn154Ile
NM_001304521.2:c.353A>T	NP_001291450.1:p.Asn118Ile
NM_183243.3:c.452A>T	NP_899066.1:p.Asn151Ile