Canonical Allele Identifier: CA457528347

Gene: IMPDH1

Linked Data

• MyVariant Identifiers: chr7:g.128038606C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398552C>G , CM000669.2:g.128398552C>G	GRCh38
NC_000007.13:g.128038606C>G , CM000669.1:g.128038606C>G	GRCh37
NC_000007.12:g.127825842C>G	NCBI36
NG_009194.1:g.16431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.828G>C	ENSP00000265385.8:p.Leu276=
ENST00000484496.6:n.811G>C
ENST00000338791.11:c.936G>C MANE Select	ENSP00000345096.6:p.Leu312=
ENST00000648462.1:c.568G>C
ENST00000338791.10:c.936G>C	ENSP00000345096.6:p.Leu312=
ENST00000348127.10:c.828G>C	ENSP00000265385.8:p.Leu276=
ENST00000354269.9:c.906G>C	ENSP00000346219.5:p.Leu302=
ENST00000419067.6:c.837G>C	ENSP00000399400.2:p.Leu279=
ENST00000468842.1:n.525G>C
ENST00000469328.5:c.701G>C
ENST00000470772.5:c.678G>C	ENSP00000417296.1:p.Leu226=
ENST00000480861.5:c.666G>C	ENSP00000420185.1:p.Leu222=
ENST00000484496.5:c.811G>C	ENSP00000418742.1:n.811G>C
ENST00000496200.5:c.606G>C	ENSP00000420803.1:p.Leu202=
ENST00000497868.5:c.729G>C	ENSP00000419609.1:p.Leu243=
ENST00000626419.2:c.678G>C	ENSP00000486056.1:p.Leu226=
NM_000883.3:c.936G>C	NP_000874.2:p.Leu312=
NM_001102605.1:c.906G>C	NP_001096075.1:p.Leu302=
NM_001142573.1:c.681G>C	NP_001136045.1:p.Leu227=
NM_001142574.1:c.666G>C	NP_001136046.1:p.Leu222=
NM_001142575.1:c.606G>C	NP_001136047.1:p.Leu202=
NM_001142576.1:c.837G>C	NP_001136048.1:p.Leu279=
NM_001304521.1:c.729G>C	NP_001291450.1:p.Leu243=
NM_183243.2:c.828G>C	NP_899066.1:p.Leu276=
XM_005250314.1:c.705G>C	XP_005250371.1:p.Leu235=
XM_006715967.1:c.936G>C	XP_006716030.1:p.Leu312=
XM_006715968.1:c.906G>C	XP_006716031.1:p.Leu302=
XM_006715969.1:c.828G>C	XP_006716032.1:p.Leu276=
XM_006715970.2:c.729G>C	XP_006716033.1:p.Leu243=
XM_006715971.1:c.705G>C	XP_006716034.1:p.Leu235=
XM_011516156.1:c.318G>C	XP_011514458.1:p.Leu106=
XM_011516157.1:c.318G>C	XP_011514459.1:p.Leu106=
XM_017012172.1:c.705G>C	XP_016867661.1:p.Leu235=
XM_017012173.1:c.906G>C	XP_016867662.1:p.Leu302=
XM_024446755.1:c.906G>C	XP_024302523.1:p.Leu302=
XM_024446756.1:c.828G>C	XP_024302524.1:p.Leu276=
XM_024446757.1:c.729G>C	XP_024302525.1:p.Leu243=
XM_024446758.1:c.705G>C	XP_024302526.1:p.Leu235=
NM_000883.4:c.936G>C MANE Select	NP_000874.2:p.Leu312=
NM_001102605.2:c.906G>C	NP_001096075.1:p.Leu302=
NM_001142573.2:c.681G>C	NP_001136045.1:p.Leu227=
NM_001142574.2:c.666G>C	NP_001136046.1:p.Leu222=
NM_001142575.2:c.606G>C	NP_001136047.1:p.Leu202=
NM_001142576.2:c.837G>C	NP_001136048.1:p.Leu279=
NM_001304521.2:c.729G>C	NP_001291450.1:p.Leu243=
NM_183243.3:c.828G>C	NP_899066.1:p.Leu276=