Canonical Allele Identifier: CA369169339

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128038603C>G (hg19) ; chr7:g.128398549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398549C>G , CM000669.2:g.128398549C>G	GRCh38
NC_000007.13:g.128038603C>G , CM000669.1:g.128038603C>G	GRCh37
NC_000007.12:g.127825839C>G	NCBI36
NG_009194.1:g.16434G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.831G>C	ENSP00000265385.8:p.Lys277Asn
ENST00000484496.6:n.814G>C
ENST00000338791.11:c.939G>C MANE Select	ENSP00000345096.6:p.Lys313Asn
ENST00000648462.1:c.571G>C
ENST00000338791.10:c.939G>C	ENSP00000345096.6:p.Lys313Asn
ENST00000348127.10:c.831G>C	ENSP00000265385.8:p.Lys277Asn
ENST00000354269.9:c.909G>C	ENSP00000346219.5:p.Lys303Asn
ENST00000419067.6:c.840G>C	ENSP00000399400.2:p.Lys280Asn
ENST00000468842.1:n.528G>C
ENST00000469328.5:c.704G>C
ENST00000470772.5:c.681G>C	ENSP00000417296.1:p.Lys227Asn
ENST00000480861.5:c.669G>C	ENSP00000420185.1:p.Lys223Asn
ENST00000484496.5:c.814G>C	ENSP00000418742.1:n.814G>C
ENST00000496200.5:c.609G>C	ENSP00000420803.1:p.Lys203Asn
ENST00000497868.5:c.732G>C	ENSP00000419609.1:p.Lys244Asn
ENST00000626419.2:c.681G>C	ENSP00000486056.1:p.Lys227Asn
NM_000883.3:c.939G>C	NP_000874.2:p.Lys313Asn
NM_001102605.1:c.909G>C	NP_001096075.1:p.Lys303Asn
NM_001142573.1:c.684G>C	NP_001136045.1:p.Lys228Asn
NM_001142574.1:c.669G>C	NP_001136046.1:p.Lys223Asn
NM_001142575.1:c.609G>C	NP_001136047.1:p.Lys203Asn
NM_001142576.1:c.840G>C	NP_001136048.1:p.Lys280Asn
NM_001304521.1:c.732G>C	NP_001291450.1:p.Lys244Asn
NM_183243.2:c.831G>C	NP_899066.1:p.Lys277Asn
XM_005250314.1:c.708G>C	XP_005250371.1:p.Lys236Asn
XM_006715967.1:c.939G>C	XP_006716030.1:p.Lys313Asn
XM_006715968.1:c.909G>C	XP_006716031.1:p.Lys303Asn
XM_006715969.1:c.831G>C	XP_006716032.1:p.Lys277Asn
XM_006715970.2:c.732G>C	XP_006716033.1:p.Lys244Asn
XM_006715971.1:c.708G>C	XP_006716034.1:p.Lys236Asn
XM_011516156.1:c.321G>C	XP_011514458.1:p.Lys107Asn
XM_011516157.1:c.321G>C	XP_011514459.1:p.Lys107Asn
XM_017012172.1:c.708G>C	XP_016867661.1:p.Lys236Asn
XM_017012173.1:c.909G>C	XP_016867662.1:p.Lys303Asn
XM_024446755.1:c.909G>C	XP_024302523.1:p.Lys303Asn
XM_024446756.1:c.831G>C	XP_024302524.1:p.Lys277Asn
XM_024446757.1:c.732G>C	XP_024302525.1:p.Lys244Asn
XM_024446758.1:c.708G>C	XP_024302526.1:p.Lys236Asn
NM_000883.4:c.939G>C MANE Select	NP_000874.2:p.Lys313Asn
NM_001102605.2:c.909G>C	NP_001096075.1:p.Lys303Asn
NM_001142573.2:c.684G>C	NP_001136045.1:p.Lys228Asn
NM_001142574.2:c.669G>C	NP_001136046.1:p.Lys223Asn
NM_001142575.2:c.609G>C	NP_001136047.1:p.Lys203Asn
NM_001142576.2:c.840G>C	NP_001136048.1:p.Lys280Asn
NM_001304521.2:c.732G>C	NP_001291450.1:p.Lys244Asn
NM_183243.3:c.831G>C	NP_899066.1:p.Lys277Asn