Canonical Allele Identifier: CA369169283

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 1810221
• ClinVar RCV Id: RCV002508869
• MyVariant Identifiers: chr7:g.128038600C>G (hg19) ; chr7:g.128398546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398546C>G , CM000669.2:g.128398546C>G	GRCh38
NC_000007.13:g.128038600C>G , CM000669.1:g.128038600C>G	GRCh37
NC_000007.12:g.127825836C>G	NCBI36
NG_009194.1:g.16437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.834G>C	ENSP00000265385.8:p.Lys278Asn
ENST00000484496.6:n.817G>C
ENST00000338791.11:c.942G>C MANE Select	ENSP00000345096.6:p.Lys314Asn
ENST00000648462.1:c.574G>C
ENST00000338791.10:c.942G>C	ENSP00000345096.6:p.Lys314Asn
ENST00000348127.10:c.834G>C	ENSP00000265385.8:p.Lys278Asn
ENST00000354269.9:c.912G>C	ENSP00000346219.5:p.Lys304Asn
ENST00000419067.6:c.843G>C	ENSP00000399400.2:p.Lys281Asn
ENST00000468842.1:n.531G>C
ENST00000469328.5:c.707G>C
ENST00000470772.5:c.684G>C	ENSP00000417296.1:p.Lys228Asn
ENST00000480861.5:c.672G>C	ENSP00000420185.1:p.Lys224Asn
ENST00000484496.5:c.817G>C	ENSP00000418742.1:n.817G>C
ENST00000496200.5:c.612G>C	ENSP00000420803.1:p.Lys204Asn
ENST00000497868.5:c.735G>C	ENSP00000419609.1:p.Lys245Asn
ENST00000626419.2:c.684G>C	ENSP00000486056.1:p.Lys228Asn
NM_000883.3:c.942G>C	NP_000874.2:p.Lys314Asn
NM_001102605.1:c.912G>C	NP_001096075.1:p.Lys304Asn
NM_001142573.1:c.687G>C	NP_001136045.1:p.Lys229Asn
NM_001142574.1:c.672G>C	NP_001136046.1:p.Lys224Asn
NM_001142575.1:c.612G>C	NP_001136047.1:p.Lys204Asn
NM_001142576.1:c.843G>C	NP_001136048.1:p.Lys281Asn
NM_001304521.1:c.735G>C	NP_001291450.1:p.Lys245Asn
NM_183243.2:c.834G>C	NP_899066.1:p.Lys278Asn
XM_005250314.1:c.711G>C	XP_005250371.1:p.Lys237Asn
XM_006715967.1:c.942G>C	XP_006716030.1:p.Lys314Asn
XM_006715968.1:c.912G>C	XP_006716031.1:p.Lys304Asn
XM_006715969.1:c.834G>C	XP_006716032.1:p.Lys278Asn
XM_006715970.2:c.735G>C	XP_006716033.1:p.Lys245Asn
XM_006715971.1:c.711G>C	XP_006716034.1:p.Lys237Asn
XM_011516156.1:c.324G>C	XP_011514458.1:p.Lys108Asn
XM_011516157.1:c.324G>C	XP_011514459.1:p.Lys108Asn
XM_017012172.1:c.711G>C	XP_016867661.1:p.Lys237Asn
XM_017012173.1:c.912G>C	XP_016867662.1:p.Lys304Asn
XM_024446755.1:c.912G>C	XP_024302523.1:p.Lys304Asn
XM_024446756.1:c.834G>C	XP_024302524.1:p.Lys278Asn
XM_024446757.1:c.735G>C	XP_024302525.1:p.Lys245Asn
XM_024446758.1:c.711G>C	XP_024302526.1:p.Lys237Asn
NM_000883.4:c.942G>C MANE Select	NP_000874.2:p.Lys314Asn
NM_001102605.2:c.912G>C	NP_001096075.1:p.Lys304Asn
NM_001142573.2:c.687G>C	NP_001136045.1:p.Lys229Asn
NM_001142574.2:c.672G>C	NP_001136046.1:p.Lys224Asn
NM_001142575.2:c.612G>C	NP_001136047.1:p.Lys204Asn
NM_001142576.2:c.843G>C	NP_001136048.1:p.Lys281Asn
NM_001304521.2:c.735G>C	NP_001291450.1:p.Lys245Asn
NM_183243.3:c.834G>C	NP_899066.1:p.Lys278Asn