Canonical Allele Identifier: CA369168284

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128038515A>T (hg19) ; chr7:g.128398461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398461A>T , CM000669.2:g.128398461A>T	GRCh38
NC_000007.13:g.128038515A>T , CM000669.1:g.128038515A>T	GRCh37
NC_000007.12:g.127825751A>T	NCBI36
NG_009194.1:g.16522T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.919T>A	ENSP00000265385.8:p.Tyr307Asn
ENST00000484496.6:n.902T>A
ENST00000338791.11:c.1027T>A MANE Select	ENSP00000345096.6:p.Tyr343Asn
ENST00000648462.1:c.659T>A
ENST00000338791.10:c.1027T>A	ENSP00000345096.6:p.Tyr343Asn
ENST00000348127.10:c.919T>A	ENSP00000265385.8:p.Tyr307Asn
ENST00000354269.9:c.997T>A	ENSP00000346219.5:p.Tyr333Asn
ENST00000419067.6:c.928T>A	ENSP00000399400.2:p.Tyr310Asn
ENST00000469328.5:c.792T>A
ENST00000470772.5:c.769T>A	ENSP00000417296.1:p.Tyr257Asn
ENST00000480861.5:c.757T>A	ENSP00000420185.1:p.Tyr253Asn
ENST00000484496.5:c.902T>A	ENSP00000418742.1:n.902T>A
ENST00000496200.5:c.697T>A	ENSP00000420803.1:p.Tyr233Asn
ENST00000497868.5:c.820T>A	ENSP00000419609.1:p.Tyr274Asn
ENST00000626419.2:c.769T>A	ENSP00000486056.1:p.Tyr257Asn
NM_000883.3:c.1027T>A	NP_000874.2:p.Tyr343Asn
NM_001102605.1:c.997T>A	NP_001096075.1:p.Tyr333Asn
NM_001142573.1:c.772T>A	NP_001136045.1:p.Tyr258Asn
NM_001142574.1:c.757T>A	NP_001136046.1:p.Tyr253Asn
NM_001142575.1:c.697T>A	NP_001136047.1:p.Tyr233Asn
NM_001142576.1:c.928T>A	NP_001136048.1:p.Tyr310Asn
NM_001304521.1:c.820T>A	NP_001291450.1:p.Tyr274Asn
NM_183243.2:c.919T>A	NP_899066.1:p.Tyr307Asn
XM_005250314.1:c.796T>A	XP_005250371.1:p.Tyr266Asn
XM_006715967.1:c.1027T>A	XP_006716030.1:p.Tyr343Asn
XM_006715968.1:c.997T>A	XP_006716031.1:p.Tyr333Asn
XM_006715969.1:c.919T>A	XP_006716032.1:p.Tyr307Asn
XM_006715970.2:c.820T>A	XP_006716033.1:p.Tyr274Asn
XM_006715971.1:c.796T>A	XP_006716034.1:p.Tyr266Asn
XM_011516156.1:c.409T>A	XP_011514458.1:p.Tyr137Asn
XM_011516157.1:c.409T>A	XP_011514459.1:p.Tyr137Asn
XM_017012172.1:c.796T>A	XP_016867661.1:p.Tyr266Asn
XM_017012173.1:c.997T>A	XP_016867662.1:p.Tyr333Asn
XM_024446755.1:c.997T>A	XP_024302523.1:p.Tyr333Asn
XM_024446756.1:c.919T>A	XP_024302524.1:p.Tyr307Asn
XM_024446757.1:c.820T>A	XP_024302525.1:p.Tyr274Asn
XM_024446758.1:c.796T>A	XP_024302526.1:p.Tyr266Asn
NM_000883.4:c.1027T>A MANE Select	NP_000874.2:p.Tyr343Asn
NM_001102605.2:c.997T>A	NP_001096075.1:p.Tyr333Asn
NM_001142573.2:c.772T>A	NP_001136045.1:p.Tyr258Asn
NM_001142574.2:c.757T>A	NP_001136046.1:p.Tyr253Asn
NM_001142575.2:c.697T>A	NP_001136047.1:p.Tyr233Asn
NM_001142576.2:c.928T>A	NP_001136048.1:p.Tyr310Asn
NM_001304521.2:c.820T>A	NP_001291450.1:p.Tyr274Asn
NM_183243.3:c.919T>A	NP_899066.1:p.Tyr307Asn