Canonical Allele Identifier: CA4470989

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 956524
• ClinVar RCV Id: RCV001229348
• dbSNP Id: rs140399669
• ExAC: 7:128038641 C / T
• gnomAD v2: 7-128038641-C-T
• gnomAD v3: 7-128398587-C-T
• gnomAD v4: 7-128398587-C-T
• MyVariant Identifiers: chr7:g.128038641C>T (hg19) ; chr7:g.128398587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398587C>T , CM000669.2:g.128398587C>T	GRCh38
NC_000007.13:g.128038641C>T , CM000669.1:g.128038641C>T	GRCh37
NC_000007.12:g.127825877C>T	NCBI36
NG_009194.1:g.16396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.793G>A	ENSP00000265385.8:p.Asp265Asn
ENST00000484496.6:n.776G>A
ENST00000338791.11:c.901G>A MANE Select	ENSP00000345096.6:p.Asp301Asn
ENST00000648462.1:c.533G>A
ENST00000338791.10:c.901G>A	ENSP00000345096.6:p.Asp301Asn
ENST00000348127.10:c.793G>A	ENSP00000265385.8:p.Asp265Asn
ENST00000354269.9:c.871G>A	ENSP00000346219.5:p.Asp291Asn
ENST00000419067.6:c.802G>A	ENSP00000399400.2:p.Asp268Asn
ENST00000468842.1:n.490G>A
ENST00000469328.5:c.666G>A
ENST00000470772.5:c.643G>A	ENSP00000417296.1:p.Asp215Asn
ENST00000480861.5:c.631G>A	ENSP00000420185.1:p.Asp211Asn
ENST00000484496.5:c.776G>A	ENSP00000418742.1:n.776G>A
ENST00000496200.5:c.571G>A	ENSP00000420803.1:p.Asp191Asn
ENST00000497868.5:c.694G>A	ENSP00000419609.1:p.Asp232Asn
ENST00000626419.2:c.643G>A	ENSP00000486056.1:p.Asp215Asn
NM_000883.3:c.901G>A	NP_000874.2:p.Asp301Asn
NM_001102605.1:c.871G>A	NP_001096075.1:p.Asp291Asn
NM_001142573.1:c.646G>A	NP_001136045.1:p.Asp216Asn
NM_001142574.1:c.631G>A	NP_001136046.1:p.Asp211Asn
NM_001142575.1:c.571G>A	NP_001136047.1:p.Asp191Asn
NM_001142576.1:c.802G>A	NP_001136048.1:p.Asp268Asn
NM_001304521.1:c.694G>A	NP_001291450.1:p.Asp232Asn
NM_183243.2:c.793G>A	NP_899066.1:p.Asp265Asn
XM_005250314.1:c.670G>A	XP_005250371.1:p.Asp224Asn
XM_006715967.1:c.901G>A	XP_006716030.1:p.Asp301Asn
XM_006715968.1:c.871G>A	XP_006716031.1:p.Asp291Asn
XM_006715969.1:c.793G>A	XP_006716032.1:p.Asp265Asn
XM_006715970.2:c.694G>A	XP_006716033.1:p.Asp232Asn
XM_006715971.1:c.670G>A	XP_006716034.1:p.Asp224Asn
XM_011516156.1:c.283G>A	XP_011514458.1:p.Asp95Asn
XM_011516157.1:c.283G>A	XP_011514459.1:p.Asp95Asn
XM_017012172.1:c.670G>A	XP_016867661.1:p.Asp224Asn
XM_017012173.1:c.871G>A	XP_016867662.1:p.Asp291Asn
XM_024446755.1:c.871G>A	XP_024302523.1:p.Asp291Asn
XM_024446756.1:c.793G>A	XP_024302524.1:p.Asp265Asn
XM_024446757.1:c.694G>A	XP_024302525.1:p.Asp232Asn
XM_024446758.1:c.670G>A	XP_024302526.1:p.Asp224Asn
NM_000883.4:c.901G>A MANE Select	NP_000874.2:p.Asp301Asn
NM_001102605.2:c.871G>A	NP_001096075.1:p.Asp291Asn
NM_001142573.2:c.646G>A	NP_001136045.1:p.Asp216Asn
NM_001142574.2:c.631G>A	NP_001136046.1:p.Asp211Asn
NM_001142575.2:c.571G>A	NP_001136047.1:p.Asp191Asn
NM_001142576.2:c.802G>A	NP_001136048.1:p.Asp268Asn
NM_001304521.2:c.694G>A	NP_001291450.1:p.Asp232Asn
NM_183243.3:c.793G>A	NP_899066.1:p.Asp265Asn