Canonical Allele Identifier: CA124382

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 14838
• ClinVar RCV Id: RCV000015963
• dbSNP Id: rs121912554
• gnomAD v4: 7-128400120-A-C
• MyVariant Identifiers: chr7:g.128040174A>C (hg19) ; chr7:g.128400120A>C (hg38)
• PubMed: PMID:16384941

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128400120A>C , CM000669.2:g.128400120A>C	GRCh38
NC_000007.13:g.128040174A>C , CM000669.1:g.128040174A>C	GRCh37
NC_000007.12:g.127827410A>C	NCBI36
NG_009194.1:g.14863T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.741T>G	ENSP00000265385.8:p.Asn247Lys
ENST00000484496.6:n.724T>G
ENST00000338791.11:c.849T>G MANE Select	ENSP00000345096.6:p.Asn283Lys
ENST00000648462.1:c.481T>G
ENST00000338791.10:c.849T>G	ENSP00000345096.6:p.Asn283Lys
ENST00000348127.10:c.741T>G	ENSP00000265385.8:p.Asn247Lys
ENST00000354269.9:c.819T>G	ENSP00000346219.5:p.Asn273Lys
ENST00000419067.6:c.750T>G	ENSP00000399400.2:p.Asn250Lys
ENST00000468842.1:n.438T>G
ENST00000469328.5:c.614T>G
ENST00000470772.5:c.591T>G	ENSP00000417296.1:p.Asn197Lys
ENST00000480861.5:c.579T>G	ENSP00000420185.1:p.Asn193Lys
ENST00000484496.5:c.724T>G	ENSP00000418742.1:n.724T>G
ENST00000496200.5:c.519T>G	ENSP00000420803.1:p.Asn173Lys
ENST00000497868.5:c.642T>G	ENSP00000419609.1:p.Asn214Lys
ENST00000626419.2:c.591T>G	ENSP00000486056.1:p.Asn197Lys
NM_000883.3:c.849T>G	NP_000874.2:p.Asn283Lys
NM_001102605.1:c.819T>G	NP_001096075.1:p.Asn273Lys
NM_001142573.1:c.594T>G	NP_001136045.1:p.Asn198Lys
NM_001142574.1:c.579T>G	NP_001136046.1:p.Asn193Lys
NM_001142575.1:c.519T>G	NP_001136047.1:p.Asn173Lys
NM_001142576.1:c.750T>G	NP_001136048.1:p.Asn250Lys
NM_001304521.1:c.642T>G	NP_001291450.1:p.Asn214Lys
NM_183243.2:c.741T>G	NP_899066.1:p.Asn247Lys
XM_005250314.1:c.618T>G	XP_005250371.1:p.Asn206Lys
XM_006715967.1:c.849T>G	XP_006716030.1:p.Asn283Lys
XM_006715968.1:c.819T>G	XP_006716031.1:p.Asn273Lys
XM_006715969.1:c.741T>G	XP_006716032.1:p.Asn247Lys
XM_006715970.2:c.642T>G	XP_006716033.1:p.Asn214Lys
XM_006715971.1:c.618T>G	XP_006716034.1:p.Asn206Lys
XM_011516156.1:c.231T>G	XP_011514458.1:p.Asn77Lys
XM_011516157.1:c.231T>G	XP_011514459.1:p.Asn77Lys
XM_017012172.1:c.618T>G	XP_016867661.1:p.Asn206Lys
XM_017012173.1:c.819T>G	XP_016867662.1:p.Asn273Lys
XM_024446755.1:c.819T>G	XP_024302523.1:p.Asn273Lys
XM_024446756.1:c.741T>G	XP_024302524.1:p.Asn247Lys
XM_024446757.1:c.642T>G	XP_024302525.1:p.Asn214Lys
XM_024446758.1:c.618T>G	XP_024302526.1:p.Asn206Lys
NM_000883.4:c.849T>G MANE Select	NP_000874.2:p.Asn283Lys
NM_001102605.2:c.819T>G	NP_001096075.1:p.Asn273Lys
NM_001142573.2:c.594T>G	NP_001136045.1:p.Asn198Lys
NM_001142574.2:c.579T>G	NP_001136046.1:p.Asn193Lys
NM_001142575.2:c.519T>G	NP_001136047.1:p.Asn173Lys
NM_001142576.2:c.750T>G	NP_001136048.1:p.Asn250Lys
NM_001304521.2:c.642T>G	NP_001291450.1:p.Asn214Lys
NM_183243.3:c.741T>G	NP_899066.1:p.Asn247Lys