Canonical Allele Identifier: CA369168381

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128038520T>G (hg19) ; chr7:g.128398466T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398466T>G , CM000669.2:g.128398466T>G	GRCh38
NC_000007.13:g.128038520T>G , CM000669.1:g.128038520T>G	GRCh37
NC_000007.12:g.127825756T>G	NCBI36
NG_009194.1:g.16517A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348127.11:c.914A>C	ENSP00000265385.8:p.Asp305Ala
ENST00000484496.6:n.897A>C
ENST00000338791.11:c.1022A>C MANE Select	ENSP00000345096.6:p.Asp341Ala
ENST00000648462.1:c.654A>C
ENST00000338791.10:c.1022A>C	ENSP00000345096.6:p.Asp341Ala
ENST00000348127.10:c.914A>C	ENSP00000265385.8:p.Asp305Ala
ENST00000354269.9:c.992A>C	ENSP00000346219.5:p.Asp331Ala
ENST00000419067.6:c.923A>C	ENSP00000399400.2:p.Asp308Ala
ENST00000469328.5:c.787A>C
ENST00000470772.5:c.764A>C	ENSP00000417296.1:p.Asp255Ala
ENST00000480861.5:c.752A>C	ENSP00000420185.1:p.Asp251Ala
ENST00000484496.5:c.897A>C	ENSP00000418742.1:n.897A>C
ENST00000496200.5:c.692A>C	ENSP00000420803.1:p.Asp231Ala
ENST00000497868.5:c.815A>C	ENSP00000419609.1:p.Asp272Ala
ENST00000626419.2:c.764A>C	ENSP00000486056.1:p.Asp255Ala
NM_000883.3:c.1022A>C	NP_000874.2:p.Asp341Ala
NM_001102605.1:c.992A>C	NP_001096075.1:p.Asp331Ala
NM_001142573.1:c.767A>C	NP_001136045.1:p.Asp256Ala
NM_001142574.1:c.752A>C	NP_001136046.1:p.Asp251Ala
NM_001142575.1:c.692A>C	NP_001136047.1:p.Asp231Ala
NM_001142576.1:c.923A>C	NP_001136048.1:p.Asp308Ala
NM_001304521.1:c.815A>C	NP_001291450.1:p.Asp272Ala
NM_183243.2:c.914A>C	NP_899066.1:p.Asp305Ala
XM_005250314.1:c.791A>C	XP_005250371.1:p.Asp264Ala
XM_006715967.1:c.1022A>C	XP_006716030.1:p.Asp341Ala
XM_006715968.1:c.992A>C	XP_006716031.1:p.Asp331Ala
XM_006715969.1:c.914A>C	XP_006716032.1:p.Asp305Ala
XM_006715970.2:c.815A>C	XP_006716033.1:p.Asp272Ala
XM_006715971.1:c.791A>C	XP_006716034.1:p.Asp264Ala
XM_011516156.1:c.404A>C	XP_011514458.1:p.Asp135Ala
XM_011516157.1:c.404A>C	XP_011514459.1:p.Asp135Ala
XM_017012172.1:c.791A>C	XP_016867661.1:p.Asp264Ala
XM_017012173.1:c.992A>C	XP_016867662.1:p.Asp331Ala
XM_024446755.1:c.992A>C	XP_024302523.1:p.Asp331Ala
XM_024446756.1:c.914A>C	XP_024302524.1:p.Asp305Ala
XM_024446757.1:c.815A>C	XP_024302525.1:p.Asp272Ala
XM_024446758.1:c.791A>C	XP_024302526.1:p.Asp264Ala
NM_000883.4:c.1022A>C MANE Select	NP_000874.2:p.Asp341Ala
NM_001102605.2:c.992A>C	NP_001096075.1:p.Asp331Ala
NM_001142573.2:c.767A>C	NP_001136045.1:p.Asp256Ala
NM_001142574.2:c.752A>C	NP_001136046.1:p.Asp251Ala
NM_001142575.2:c.692A>C	NP_001136047.1:p.Asp231Ala
NM_001142576.2:c.923A>C	NP_001136048.1:p.Asp308Ala
NM_001304521.2:c.815A>C	NP_001291450.1:p.Asp272Ala
NM_183243.3:c.914A>C	NP_899066.1:p.Asp305Ala