Canonical Allele Identifier: CA4471162

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 2084598
• ClinVar RCV Id: RCV002994788
• dbSNP Id: rs141536048
• ExAC: 7:128041144 C / T
• gnomAD v2: 7-128041144-C-T
• gnomAD v3: 7-128401090-C-T
• gnomAD v4: 7-128401090-C-T
• MyVariant Identifiers: chr7:g.128041144C>T (hg19) ; chr7:g.128401090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401090C>T , CM000669.2:g.128401090C>T	GRCh38
NC_000007.13:g.128041144C>T , CM000669.1:g.128041144C>T	GRCh37
NC_000007.12:g.127828380C>T	NCBI36
NG_009194.1:g.13893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.321G>A	ENSP00000265385.8:p.Lys107=
ENST00000484496.6:n.285G>A
ENST00000338791.11:c.429G>A MANE Select	ENSP00000345096.6:p.Lys143=
ENST00000648462.1:c.76G>A
ENST00000338791.10:c.429G>A	ENSP00000345096.6:p.Lys143=
ENST00000348127.10:c.321G>A	ENSP00000265385.8:p.Lys107=
ENST00000354269.9:c.399G>A	ENSP00000346219.5:p.Lys133=
ENST00000419067.6:c.330G>A	ENSP00000399400.2:p.Lys110=
ENST00000469328.5:c.175G>A
ENST00000470772.5:c.174G>A	ENSP00000417296.1:p.Lys58=
ENST00000473463.1:c.*175G>A	ENSP00000420469.1:n.*175G>A
ENST00000480861.5:c.174G>A	ENSP00000420185.1:p.Lys58=
ENST00000484496.5:c.285G>A	ENSP00000418742.1:p.Lys95=
ENST00000489263.1:c.222G>A	ENSP00000418592.1:p.Lys74=
ENST00000491376.5:n.598G>A
ENST00000496200.5:c.174G>A	ENSP00000420803.1:p.Lys58=
ENST00000496487.5:n.249G>A
ENST00000497868.5:c.222G>A	ENSP00000419609.1:p.Lys74=
ENST00000626419.2:c.174G>A	ENSP00000486056.1:p.Lys58=
NM_000883.3:c.429G>A	NP_000874.2:p.Lys143=
NM_001102605.1:c.399G>A	NP_001096075.1:p.Lys133=
NM_001142573.1:c.174G>A	NP_001136045.1:p.Lys58=
NM_001142574.1:c.174G>A	NP_001136046.1:p.Lys58=
NM_001142575.1:c.174G>A	NP_001136047.1:p.Lys58=
NM_001142576.1:c.330G>A	NP_001136048.1:p.Lys110=
NM_001304521.1:c.222G>A	NP_001291450.1:p.Lys74=
NM_183243.2:c.321G>A	NP_899066.1:p.Lys107=
XM_005250314.1:c.198G>A	XP_005250371.1:p.Lys66=
XM_006715967.1:c.429G>A	XP_006716030.1:p.Lys143=
XM_006715968.1:c.399G>A	XP_006716031.1:p.Lys133=
XM_006715969.1:c.321G>A	XP_006716032.1:p.Lys107=
XM_006715970.2:c.222G>A	XP_006716033.1:p.Lys74=
XM_006715971.1:c.198G>A	XP_006716034.1:p.Lys66=
XM_017012172.1:c.198G>A	XP_016867661.1:p.Lys66=
XM_017012173.1:c.399G>A	XP_016867662.1:p.Lys133=
XM_024446755.1:c.399G>A	XP_024302523.1:p.Lys133=
XM_024446756.1:c.321G>A	XP_024302524.1:p.Lys107=
XM_024446757.1:c.222G>A	XP_024302525.1:p.Lys74=
XM_024446758.1:c.198G>A	XP_024302526.1:p.Lys66=
NM_000883.4:c.429G>A MANE Select	NP_000874.2:p.Lys143=
NM_001102605.2:c.399G>A	NP_001096075.1:p.Lys133=
NM_001142573.2:c.174G>A	NP_001136045.1:p.Lys58=
NM_001142574.2:c.174G>A	NP_001136046.1:p.Lys58=
NM_001142575.2:c.174G>A	NP_001136047.1:p.Lys58=
NM_001142576.2:c.330G>A	NP_001136048.1:p.Lys110=
NM_001304521.2:c.222G>A	NP_001291450.1:p.Lys74=
NM_183243.3:c.321G>A	NP_899066.1:p.Lys107=