Canonical Allele Identifier: CA457528217
Gene: IMPDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128038516T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128398462T>C , CM000669.2:g.128398462T>C GRCh38
NC_000007.13:g.128038516T>C , CM000669.1:g.128038516T>C GRCh37
NC_000007.12:g.127825752T>C NCBI36
NG_009194.1:g.16521A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348127.11:c.918A>G ENSP00000265385.8:p.Lys306=
ENST00000484496.6:n.901A>G
ENST00000338791.11:c.1026A>G MANE Select ENSP00000345096.6:p.Lys342=
ENST00000648462.1:c.658A>G
ENST00000338791.10:c.1026A>G ENSP00000345096.6:p.Lys342=
ENST00000348127.10:c.918A>G ENSP00000265385.8:p.Lys306=
ENST00000354269.9:c.996A>G ENSP00000346219.5:p.Lys332=
ENST00000419067.6:c.927A>G ENSP00000399400.2:p.Lys309=
ENST00000469328.5:c.791A>G
ENST00000470772.5:c.768A>G ENSP00000417296.1:p.Lys256=
ENST00000480861.5:c.756A>G ENSP00000420185.1:p.Lys252=
ENST00000484496.5:c.901A>G ENSP00000418742.1:n.901A>G
ENST00000496200.5:c.696A>G ENSP00000420803.1:p.Lys232=
ENST00000497868.5:c.819A>G ENSP00000419609.1:p.Lys273=
ENST00000626419.2:c.768A>G ENSP00000486056.1:p.Lys256=
NM_000883.3:c.1026A>G NP_000874.2:p.Lys342=
NM_001102605.1:c.996A>G NP_001096075.1:p.Lys332=
NM_001142573.1:c.771A>G NP_001136045.1:p.Lys257=
NM_001142574.1:c.756A>G NP_001136046.1:p.Lys252=
NM_001142575.1:c.696A>G NP_001136047.1:p.Lys232=
NM_001142576.1:c.927A>G NP_001136048.1:p.Lys309=
NM_001304521.1:c.819A>G NP_001291450.1:p.Lys273=
NM_183243.2:c.918A>G NP_899066.1:p.Lys306=
XM_005250314.1:c.795A>G XP_005250371.1:p.Lys265=
XM_006715967.1:c.1026A>G XP_006716030.1:p.Lys342=
XM_006715968.1:c.996A>G XP_006716031.1:p.Lys332=
XM_006715969.1:c.918A>G XP_006716032.1:p.Lys306=
XM_006715970.2:c.819A>G XP_006716033.1:p.Lys273=
XM_006715971.1:c.795A>G XP_006716034.1:p.Lys265=
XM_011516156.1:c.408A>G XP_011514458.1:p.Lys136=
XM_011516157.1:c.408A>G XP_011514459.1:p.Lys136=
XM_017012172.1:c.795A>G XP_016867661.1:p.Lys265=
XM_017012173.1:c.996A>G XP_016867662.1:p.Lys332=
XM_024446755.1:c.996A>G XP_024302523.1:p.Lys332=
XM_024446756.1:c.918A>G XP_024302524.1:p.Lys306=
XM_024446757.1:c.819A>G XP_024302525.1:p.Lys273=
XM_024446758.1:c.795A>G XP_024302526.1:p.Lys265=
NM_000883.4:c.1026A>G MANE Select NP_000874.2:p.Lys342=
NM_001102605.2:c.996A>G NP_001096075.1:p.Lys332=
NM_001142573.2:c.771A>G NP_001136045.1:p.Lys257=
NM_001142574.2:c.756A>G NP_001136046.1:p.Lys252=
NM_001142575.2:c.696A>G NP_001136047.1:p.Lys232=
NM_001142576.2:c.927A>G NP_001136048.1:p.Lys309=
NM_001304521.2:c.819A>G NP_001291450.1:p.Lys273=
NM_183243.3:c.918A>G NP_899066.1:p.Lys306=