Canonical Allele Identifier: CA369174475

Gene: IMPDH1

Linked Data

• dbSNP Id: rs1562994573
• gnomAD v2: 7-128041115-G-C
• gnomAD v4: 7-128401061-G-C
• MyVariant Identifiers: chr7:g.128041115G>C (hg19) ; chr7:g.128041115_128041116delinsCA (hg19) ; chr7:g.128401061G>C (hg38) ; chr7:g.128401061_128401062delinsCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401061G>C , CM000669.2:g.128401061G>C	GRCh38
NC_000007.13:g.128041115G>C , CM000669.1:g.128041115G>C	GRCh37
NC_000007.12:g.127828351G>C	NCBI36
NG_009194.1:g.13922C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.350C>G	ENSP00000265385.8:p.Ser117Cys
ENST00000484496.6:n.314C>G
ENST00000338791.11:c.458C>G MANE Select	ENSP00000345096.6:p.Ser153Cys
ENST00000648462.1:c.105C>G
ENST00000338791.10:c.458C>G	ENSP00000345096.6:p.Ser153Cys
ENST00000348127.10:c.350C>G	ENSP00000265385.8:p.Ser117Cys
ENST00000354269.9:c.428C>G	ENSP00000346219.5:p.Ser143Cys
ENST00000419067.6:c.359C>G	ENSP00000399400.2:p.Ser120Cys
ENST00000469328.5:c.204C>G
ENST00000470772.5:c.203C>G	ENSP00000417296.1:p.Ser68Cys
ENST00000473463.1:c.*204C>G	ENSP00000420469.1:n.*204C>G
ENST00000480861.5:c.203C>G	ENSP00000420185.1:p.Ser68Cys
ENST00000484496.5:c.314C>G	ENSP00000418742.1:p.Ser105Cys
ENST00000489263.1:c.251C>G	ENSP00000418592.1:p.Ser84Cys
ENST00000491376.5:n.627C>G
ENST00000496200.5:c.203C>G	ENSP00000420803.1:p.Ser68Cys
ENST00000496487.5:n.278C>G
ENST00000497868.5:c.251C>G	ENSP00000419609.1:p.Ser84Cys
ENST00000626419.2:c.203C>G	ENSP00000486056.1:p.Ser68Cys
NM_000883.3:c.458C>G	NP_000874.2:p.Ser153Cys
NM_001102605.1:c.428C>G	NP_001096075.1:p.Ser143Cys
NM_001142573.1:c.203C>G	NP_001136045.1:p.Ser68Cys
NM_001142574.1:c.203C>G	NP_001136046.1:p.Ser68Cys
NM_001142575.1:c.203C>G	NP_001136047.1:p.Ser68Cys
NM_001142576.1:c.359C>G	NP_001136048.1:p.Ser120Cys
NM_001304521.1:c.251C>G	NP_001291450.1:p.Ser84Cys
NM_183243.2:c.350C>G	NP_899066.1:p.Ser117Cys
XM_005250314.1:c.227C>G	XP_005250371.1:p.Ser76Cys
XM_006715967.1:c.458C>G	XP_006716030.1:p.Ser153Cys
XM_006715968.1:c.428C>G	XP_006716031.1:p.Ser143Cys
XM_006715969.1:c.350C>G	XP_006716032.1:p.Ser117Cys
XM_006715970.2:c.251C>G	XP_006716033.1:p.Ser84Cys
XM_006715971.1:c.227C>G	XP_006716034.1:p.Ser76Cys
XM_017012172.1:c.227C>G	XP_016867661.1:p.Ser76Cys
XM_017012173.1:c.428C>G	XP_016867662.1:p.Ser143Cys
XM_024446755.1:c.428C>G	XP_024302523.1:p.Ser143Cys
XM_024446756.1:c.350C>G	XP_024302524.1:p.Ser117Cys
XM_024446757.1:c.251C>G	XP_024302525.1:p.Ser84Cys
XM_024446758.1:c.227C>G	XP_024302526.1:p.Ser76Cys
NM_000883.4:c.458C>G MANE Select	NP_000874.2:p.Ser153Cys
NM_001102605.2:c.428C>G	NP_001096075.1:p.Ser143Cys
NM_001142573.2:c.203C>G	NP_001136045.1:p.Ser68Cys
NM_001142574.2:c.203C>G	NP_001136046.1:p.Ser68Cys
NM_001142575.2:c.203C>G	NP_001136047.1:p.Ser68Cys
NM_001142576.2:c.359C>G	NP_001136048.1:p.Ser120Cys
NM_001304521.2:c.251C>G	NP_001291450.1:p.Ser84Cys
NM_183243.3:c.350C>G	NP_899066.1:p.Ser117Cys