Canonical Allele Identifier: CA369168812

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128038561C>A (hg19) ; chr7:g.128398507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398507C>A , CM000669.2:g.128398507C>A	GRCh38
NC_000007.13:g.128038561C>A , CM000669.1:g.128038561C>A	GRCh37
NC_000007.12:g.127825797C>A	NCBI36
NG_009194.1:g.16476G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.873G>T	ENSP00000265385.8:p.Lys291Asn
ENST00000484496.6:n.856G>T
ENST00000338791.11:c.981G>T MANE Select	ENSP00000345096.6:p.Lys327Asn
ENST00000648462.1:c.613G>T
ENST00000338791.10:c.981G>T	ENSP00000345096.6:p.Lys327Asn
ENST00000348127.10:c.873G>T	ENSP00000265385.8:p.Lys291Asn
ENST00000354269.9:c.951G>T	ENSP00000346219.5:p.Lys317Asn
ENST00000419067.6:c.882G>T	ENSP00000399400.2:p.Lys294Asn
ENST00000468842.1:n.570G>T
ENST00000469328.5:c.746G>T
ENST00000470772.5:c.723G>T	ENSP00000417296.1:p.Lys241Asn
ENST00000480861.5:c.711G>T	ENSP00000420185.1:p.Lys237Asn
ENST00000484496.5:c.856G>T	ENSP00000418742.1:n.856G>T
ENST00000496200.5:c.651G>T	ENSP00000420803.1:p.Lys217Asn
ENST00000497868.5:c.774G>T	ENSP00000419609.1:p.Lys258Asn
ENST00000626419.2:c.723G>T	ENSP00000486056.1:p.Lys241Asn
NM_000883.3:c.981G>T	NP_000874.2:p.Lys327Asn
NM_001102605.1:c.951G>T	NP_001096075.1:p.Lys317Asn
NM_001142573.1:c.726G>T	NP_001136045.1:p.Lys242Asn
NM_001142574.1:c.711G>T	NP_001136046.1:p.Lys237Asn
NM_001142575.1:c.651G>T	NP_001136047.1:p.Lys217Asn
NM_001142576.1:c.882G>T	NP_001136048.1:p.Lys294Asn
NM_001304521.1:c.774G>T	NP_001291450.1:p.Lys258Asn
NM_183243.2:c.873G>T	NP_899066.1:p.Lys291Asn
XM_005250314.1:c.750G>T	XP_005250371.1:p.Lys250Asn
XM_006715967.1:c.981G>T	XP_006716030.1:p.Lys327Asn
XM_006715968.1:c.951G>T	XP_006716031.1:p.Lys317Asn
XM_006715969.1:c.873G>T	XP_006716032.1:p.Lys291Asn
XM_006715970.2:c.774G>T	XP_006716033.1:p.Lys258Asn
XM_006715971.1:c.750G>T	XP_006716034.1:p.Lys250Asn
XM_011516156.1:c.363G>T	XP_011514458.1:p.Lys121Asn
XM_011516157.1:c.363G>T	XP_011514459.1:p.Lys121Asn
XM_017012172.1:c.750G>T	XP_016867661.1:p.Lys250Asn
XM_017012173.1:c.951G>T	XP_016867662.1:p.Lys317Asn
XM_024446755.1:c.951G>T	XP_024302523.1:p.Lys317Asn
XM_024446756.1:c.873G>T	XP_024302524.1:p.Lys291Asn
XM_024446757.1:c.774G>T	XP_024302525.1:p.Lys258Asn
XM_024446758.1:c.750G>T	XP_024302526.1:p.Lys250Asn
NM_000883.4:c.981G>T MANE Select	NP_000874.2:p.Lys327Asn
NM_001102605.2:c.951G>T	NP_001096075.1:p.Lys317Asn
NM_001142573.2:c.726G>T	NP_001136045.1:p.Lys242Asn
NM_001142574.2:c.711G>T	NP_001136046.1:p.Lys237Asn
NM_001142575.2:c.651G>T	NP_001136047.1:p.Lys217Asn
NM_001142576.2:c.882G>T	NP_001136048.1:p.Lys294Asn
NM_001304521.2:c.774G>T	NP_001291450.1:p.Lys258Asn
NM_183243.3:c.873G>T	NP_899066.1:p.Lys291Asn