Canonical Allele Identifier: CA4470760

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 711446
• ClinVar RCV Id: RCV001164811 ; RCV000883210 ; RCV001164810 ; RCV001701347
• dbSNP Id: rs201803921
• ExAC: 7:128034536 G / A
• gnomAD v2: 7-128034536-G-A
• gnomAD v3: 7-128394482-G-A
• gnomAD v4: 7-128394482-G-A
• MyVariant Identifiers: chr7:g.128034536G>A (hg19) ; chr7:g.128394482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128394482G>A , CM000669.2:g.128394482G>A	GRCh38
NC_000007.13:g.128034536G>A , CM000669.1:g.128034536G>A	GRCh37
NC_000007.12:g.127821772G>A	NCBI36
NG_009194.1:g.20501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.1560C>T	ENSP00000265385.8:p.Ile520=
ENST00000484496.6:n.1543C>T
ENST00000338791.11:c.1668C>T MANE Select	ENSP00000345096.6:p.Ile556=
ENST00000648462.1:c.1300C>T
ENST00000338791.10:c.1668C>T	ENSP00000345096.6:p.Ile556=
ENST00000348127.10:c.1560C>T	ENSP00000265385.8:p.Ile520=
ENST00000354269.9:c.1638C>T	ENSP00000346219.5:p.Ile546=
ENST00000419067.6:c.1569C>T	ENSP00000399400.2:p.Ile523=
ENST00000460045.1:n.558C>T
ENST00000469328.5:c.1433C>T
ENST00000470772.5:c.1410C>T	ENSP00000417296.1:p.Ile470=
ENST00000480861.5:c.1398C>T	ENSP00000420185.1:p.Ile466=
ENST00000484496.5:c.1543C>T	ENSP00000418742.1:n.1543C>T
ENST00000496200.5:c.1338C>T	ENSP00000420803.1:p.Ile446=
ENST00000626419.2:c.1410C>T	ENSP00000486056.1:p.Ile470=
NM_000883.3:c.1668C>T	NP_000874.2:p.Ile556=
NM_001102605.1:c.1638C>T	NP_001096075.1:p.Ile546=
NM_001142573.1:c.1413C>T	NP_001136045.1:p.Ile471=
NM_001142574.1:c.1398C>T	NP_001136046.1:p.Ile466=
NM_001142575.1:c.1338C>T	NP_001136047.1:p.Ile446=
NM_001142576.1:c.1569C>T	NP_001136048.1:p.Ile523=
NM_001304521.1:c.1461C>T	NP_001291450.1:p.Ile487=
NM_183243.2:c.1560C>T	NP_899066.1:p.Ile520=
XM_005250314.1:c.1437C>T	XP_005250371.1:p.Ile479=
XM_006715967.1:c.1668C>T	XP_006716030.1:p.Ile556=
XM_006715968.1:c.1638C>T	XP_006716031.1:p.Ile546=
XM_006715969.1:c.1560C>T	XP_006716032.1:p.Ile520=
XM_006715970.2:c.1461C>T	XP_006716033.1:p.Ile487=
XM_006715971.1:c.1437C>T	XP_006716034.1:p.Ile479=
XM_011516156.1:c.1050C>T	XP_011514458.1:p.Ile350=
XM_011516157.1:c.1050C>T	XP_011514459.1:p.Ile350=
XM_017012172.1:c.1437C>T	XP_016867661.1:p.Ile479=
XM_024446755.1:c.1638C>T	XP_024302523.1:p.Ile546=
XM_024446756.1:c.1560C>T	XP_024302524.1:p.Ile520=
XM_024446757.1:c.1461C>T	XP_024302525.1:p.Ile487=
XM_024446758.1:c.1437C>T	XP_024302526.1:p.Ile479=
NM_000883.4:c.1668C>T MANE Select	NP_000874.2:p.Ile556=
NM_001102605.2:c.1638C>T	NP_001096075.1:p.Ile546=
NM_001142573.2:c.1413C>T	NP_001136045.1:p.Ile471=
NM_001142574.2:c.1398C>T	NP_001136046.1:p.Ile466=
NM_001142575.2:c.1338C>T	NP_001136047.1:p.Ile446=
NM_001142576.2:c.1569C>T	NP_001136048.1:p.Ile523=
NM_001304521.2:c.1461C>T	NP_001291450.1:p.Ile487=
NM_183243.3:c.1560C>T	NP_899066.1:p.Ile520=