Canonical Allele Identifier: CA369174349

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128041085A>T (hg19) ; chr7:g.128401031A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401031A>T , CM000669.2:g.128401031A>T	GRCh38
NC_000007.13:g.128041085A>T , CM000669.1:g.128041085A>T	GRCh37
NC_000007.12:g.127828321A>T	NCBI36
NG_009194.1:g.13952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.380T>A	ENSP00000265385.8:p.Met127Lys
ENST00000484496.6:n.344T>A
ENST00000338791.11:c.488T>A MANE Select	ENSP00000345096.6:p.Met163Lys
ENST00000648462.1:c.135T>A
ENST00000338791.10:c.488T>A	ENSP00000345096.6:p.Met163Lys
ENST00000348127.10:c.380T>A	ENSP00000265385.8:p.Met127Lys
ENST00000354269.9:c.458T>A	ENSP00000346219.5:p.Met153Lys
ENST00000419067.6:c.389T>A	ENSP00000399400.2:p.Met130Lys
ENST00000469328.5:c.234T>A
ENST00000470772.5:c.233T>A	ENSP00000417296.1:p.Met78Lys
ENST00000473463.1:c.*234T>A	ENSP00000420469.1:n.*234T>A
ENST00000480861.5:c.233T>A	ENSP00000420185.1:p.Met78Lys
ENST00000484496.5:c.344T>A	ENSP00000418742.1:p.Met115Lys
ENST00000489263.1:c.281T>A	ENSP00000418592.1:p.Met94Lys
ENST00000491376.5:n.657T>A
ENST00000496200.5:c.233T>A	ENSP00000420803.1:p.Met78Lys
ENST00000496487.5:n.308T>A
ENST00000497868.5:c.281T>A	ENSP00000419609.1:p.Met94Lys
ENST00000626419.2:c.233T>A	ENSP00000486056.1:p.Met78Lys
NM_000883.3:c.488T>A	NP_000874.2:p.Met163Lys
NM_001102605.1:c.458T>A	NP_001096075.1:p.Met153Lys
NM_001142573.1:c.233T>A	NP_001136045.1:p.Met78Lys
NM_001142574.1:c.233T>A	NP_001136046.1:p.Met78Lys
NM_001142575.1:c.233T>A	NP_001136047.1:p.Met78Lys
NM_001142576.1:c.389T>A	NP_001136048.1:p.Met130Lys
NM_001304521.1:c.281T>A	NP_001291450.1:p.Met94Lys
NM_183243.2:c.380T>A	NP_899066.1:p.Met127Lys
XM_005250314.1:c.257T>A	XP_005250371.1:p.Met86Lys
XM_006715967.1:c.488T>A	XP_006716030.1:p.Met163Lys
XM_006715968.1:c.458T>A	XP_006716031.1:p.Met153Lys
XM_006715969.1:c.380T>A	XP_006716032.1:p.Met127Lys
XM_006715970.2:c.281T>A	XP_006716033.1:p.Met94Lys
XM_006715971.1:c.257T>A	XP_006716034.1:p.Met86Lys
XM_017012172.1:c.257T>A	XP_016867661.1:p.Met86Lys
XM_017012173.1:c.458T>A	XP_016867662.1:p.Met153Lys
XM_024446755.1:c.458T>A	XP_024302523.1:p.Met153Lys
XM_024446756.1:c.380T>A	XP_024302524.1:p.Met127Lys
XM_024446757.1:c.281T>A	XP_024302525.1:p.Met94Lys
XM_024446758.1:c.257T>A	XP_024302526.1:p.Met86Lys
NM_000883.4:c.488T>A MANE Select	NP_000874.2:p.Met163Lys
NM_001102605.2:c.458T>A	NP_001096075.1:p.Met153Lys
NM_001142573.2:c.233T>A	NP_001136045.1:p.Met78Lys
NM_001142574.2:c.233T>A	NP_001136046.1:p.Met78Lys
NM_001142575.2:c.233T>A	NP_001136047.1:p.Met78Lys
NM_001142576.2:c.389T>A	NP_001136048.1:p.Met130Lys
NM_001304521.2:c.281T>A	NP_001291450.1:p.Met94Lys
NM_183243.3:c.380T>A	NP_899066.1:p.Met127Lys