Canonical Allele Identifier: CA10628265

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 358871
• ClinVar RCV Id: RCV000308314 ; RCV000395963
• dbSNP Id: rs886061984
• MyVariant Identifiers: chr7:g.128034406C>T (hg19) ; chr7:g.128394352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128394352C>T , CM000669.2:g.128394352C>T	GRCh38
NC_000007.13:g.128034406C>T , CM000669.1:g.128034406C>T	GRCh37
NC_000007.12:g.127821642C>T	NCBI36
NG_009194.1:g.20631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.1596G>A	ENSP00000265385.8:p.Met532Ile
ENST00000484496.6:n.1579G>A
ENST00000338791.11:c.1704G>A MANE Select	ENSP00000345096.6:p.Met568Ile
ENST00000648462.1:c.1336G>A
ENST00000338791.10:c.1704G>A	ENSP00000345096.6:p.Met568Ile
ENST00000348127.10:c.1596G>A	ENSP00000265385.8:p.Met532Ile
ENST00000354269.9:c.1674G>A	ENSP00000346219.5:p.Met558Ile
ENST00000419067.6:c.1605G>A	ENSP00000399400.2:p.Met535Ile
ENST00000460045.1:n.594G>A
ENST00000469328.5:c.1469G>A
ENST00000470772.5:c.1446G>A	ENSP00000417296.1:p.Met482Ile
ENST00000480861.5:c.1434G>A	ENSP00000420185.1:p.Met478Ile
ENST00000484496.5:c.1579G>A	ENSP00000418742.1:n.1579G>A
ENST00000496200.5:c.1374G>A	ENSP00000420803.1:p.Met458Ile
ENST00000626419.2:c.1446G>A	ENSP00000486056.1:p.Met482Ile
NM_000883.3:c.1704G>A	NP_000874.2:p.Met568Ile
NM_001102605.1:c.1674G>A	NP_001096075.1:p.Met558Ile
NM_001142573.1:c.1449G>A	NP_001136045.1:p.Met483Ile
NM_001142574.1:c.1434G>A	NP_001136046.1:p.Met478Ile
NM_001142575.1:c.1374G>A	NP_001136047.1:p.Met458Ile
NM_001142576.1:c.1605G>A	NP_001136048.1:p.Met535Ile
NM_001304521.1:c.1497G>A	NP_001291450.1:p.Met499Ile
NM_183243.2:c.1596G>A	NP_899066.1:p.Met532Ile
XM_005250314.1:c.1473G>A	XP_005250371.1:p.Met491Ile
XM_006715967.1:c.1704G>A	XP_006716030.1:p.Met568Ile
XM_006715968.1:c.1674G>A	XP_006716031.1:p.Met558Ile
XM_006715969.1:c.1596G>A	XP_006716032.1:p.Met532Ile
XM_006715970.2:c.1497G>A	XP_006716033.1:p.Met499Ile
XM_006715971.1:c.1473G>A	XP_006716034.1:p.Met491Ile
XM_011516156.1:c.1086G>A	XP_011514458.1:p.Met362Ile
XM_011516157.1:c.1086G>A	XP_011514459.1:p.Met362Ile
XM_017012172.1:c.1473G>A	XP_016867661.1:p.Met491Ile
XM_024446755.1:c.1674G>A	XP_024302523.1:p.Met558Ile
XM_024446756.1:c.1596G>A	XP_024302524.1:p.Met532Ile
XM_024446757.1:c.1497G>A	XP_024302525.1:p.Met499Ile
XM_024446758.1:c.1473G>A	XP_024302526.1:p.Met491Ile
NM_000883.4:c.1704G>A MANE Select	NP_000874.2:p.Met568Ile
NM_001102605.2:c.1674G>A	NP_001096075.1:p.Met558Ile
NM_001142573.2:c.1449G>A	NP_001136045.1:p.Met483Ile
NM_001142574.2:c.1434G>A	NP_001136046.1:p.Met478Ile
NM_001142575.2:c.1374G>A	NP_001136047.1:p.Met458Ile
NM_001142576.2:c.1605G>A	NP_001136048.1:p.Met535Ile
NM_001304521.2:c.1497G>A	NP_001291450.1:p.Met499Ile
NM_183243.3:c.1596G>A	NP_899066.1:p.Met532Ile