Canonical Allele Identifier: CA4470759

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 1413530
• ClinVar RCV Id: RCV001945046
• dbSNP Id: rs777346676
• ExAC: 7:128034529 G / A
• gnomAD v2: 7-128034529-G-A
• gnomAD v3: 7-128394475-G-A
• gnomAD v4: 7-128394475-G-A
• MyVariant Identifiers: chr7:g.128034529G>A (hg19) ; chr7:g.128394475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128394475G>A , CM000669.2:g.128394475G>A	GRCh38
NC_000007.13:g.128034529G>A , CM000669.1:g.128034529G>A	GRCh37
NC_000007.12:g.127821765G>A	NCBI36
NG_009194.1:g.20508C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.1567C>T	ENSP00000265385.8:p.Arg523Cys
ENST00000484496.6:n.1550C>T
ENST00000338791.11:c.1675C>T MANE Select	ENSP00000345096.6:p.Arg559Cys
ENST00000648462.1:c.1307C>T
ENST00000338791.10:c.1675C>T	ENSP00000345096.6:p.Arg559Cys
ENST00000348127.10:c.1567C>T	ENSP00000265385.8:p.Arg523Cys
ENST00000354269.9:c.1645C>T	ENSP00000346219.5:p.Arg549Cys
ENST00000419067.6:c.1576C>T	ENSP00000399400.2:p.Arg526Cys
ENST00000460045.1:n.565C>T
ENST00000469328.5:c.1440C>T
ENST00000470772.5:c.1417C>T	ENSP00000417296.1:p.Arg473Cys
ENST00000480861.5:c.1405C>T	ENSP00000420185.1:p.Arg469Cys
ENST00000484496.5:c.1550C>T	ENSP00000418742.1:n.1550C>T
ENST00000496200.5:c.1345C>T	ENSP00000420803.1:p.Arg449Cys
ENST00000626419.2:c.1417C>T	ENSP00000486056.1:p.Arg473Cys
NM_000883.3:c.1675C>T	NP_000874.2:p.Arg559Cys
NM_001102605.1:c.1645C>T	NP_001096075.1:p.Arg549Cys
NM_001142573.1:c.1420C>T	NP_001136045.1:p.Arg474Cys
NM_001142574.1:c.1405C>T	NP_001136046.1:p.Arg469Cys
NM_001142575.1:c.1345C>T	NP_001136047.1:p.Arg449Cys
NM_001142576.1:c.1576C>T	NP_001136048.1:p.Arg526Cys
NM_001304521.1:c.1468C>T	NP_001291450.1:p.Arg490Cys
NM_183243.2:c.1567C>T	NP_899066.1:p.Arg523Cys
XM_005250314.1:c.1444C>T	XP_005250371.1:p.Arg482Cys
XM_006715967.1:c.1675C>T	XP_006716030.1:p.Arg559Cys
XM_006715968.1:c.1645C>T	XP_006716031.1:p.Arg549Cys
XM_006715969.1:c.1567C>T	XP_006716032.1:p.Arg523Cys
XM_006715970.2:c.1468C>T	XP_006716033.1:p.Arg490Cys
XM_006715971.1:c.1444C>T	XP_006716034.1:p.Arg482Cys
XM_011516156.1:c.1057C>T	XP_011514458.1:p.Arg353Cys
XM_011516157.1:c.1057C>T	XP_011514459.1:p.Arg353Cys
XM_017012172.1:c.1444C>T	XP_016867661.1:p.Arg482Cys
XM_024446755.1:c.1645C>T	XP_024302523.1:p.Arg549Cys
XM_024446756.1:c.1567C>T	XP_024302524.1:p.Arg523Cys
XM_024446757.1:c.1468C>T	XP_024302525.1:p.Arg490Cys
XM_024446758.1:c.1444C>T	XP_024302526.1:p.Arg482Cys
NM_000883.4:c.1675C>T MANE Select	NP_000874.2:p.Arg559Cys
NM_001102605.2:c.1645C>T	NP_001096075.1:p.Arg549Cys
NM_001142573.2:c.1420C>T	NP_001136045.1:p.Arg474Cys
NM_001142574.2:c.1405C>T	NP_001136046.1:p.Arg469Cys
NM_001142575.2:c.1345C>T	NP_001136047.1:p.Arg449Cys
NM_001142576.2:c.1576C>T	NP_001136048.1:p.Arg526Cys
NM_001304521.2:c.1468C>T	NP_001291450.1:p.Arg490Cys
NM_183243.3:c.1567C>T	NP_899066.1:p.Arg523Cys