Canonical Allele Identifier: CA916082961

Gene: IMPDH1

Linked Data

• ClinVar Variation Id: 866141
• ClinVar RCV Id: RCV001073922
• dbSNP Id: rs1798084798

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128398502_128398504dup , CM000669.2:g.128398502_128398504dup	GRCh38
NC_000007.13:g.128038556_128038558dup , CM000669.1:g.128038556_128038558dup	GRCh37
NC_000007.12:g.127825792_127825794dup	NCBI36
NG_009194.1:g.16482_16484dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.879_881dup	ENSP00000265385.8:p.Leu294_Cys295insLeu
ENST00000484496.6:n.862_864dup
ENST00000338791.11:c.987_989dup MANE Select	ENSP00000345096.6:p.Leu330_Cys331insLeu
ENST00000648462.1:c.619_621dup
ENST00000338791.10:c.987_989dup	ENSP00000345096.6:p.Leu330_Cys331insLeu
ENST00000348127.10:c.879_881dup	ENSP00000265385.8:p.Leu294_Cys295insLeu
ENST00000354269.9:c.957_959dup	ENSP00000346219.5:p.Leu320_Cys321insLeu
ENST00000419067.6:c.888_890dup	ENSP00000399400.2:p.Leu297_Cys298insLeu
ENST00000468842.1:n.576_578dup
ENST00000469328.5:c.752_754dup
ENST00000470772.5:c.729_731dup	ENSP00000417296.1:p.Leu244_Cys245insLeu
ENST00000480861.5:c.717_719dup	ENSP00000420185.1:p.Leu240_Cys241insLeu
ENST00000484496.5:c.862_864dup	ENSP00000418742.1:n.862_864dup
ENST00000496200.5:c.657_659dup	ENSP00000420803.1:p.Leu220_Cys221insLeu
ENST00000497868.5:c.780_782dup	ENSP00000419609.1:p.Leu261_Cys262insLeu
ENST00000626419.2:c.729_731dup	ENSP00000486056.1:p.Leu244_Cys245insLeu
NM_000883.3:c.987_989dup	NP_000874.2:p.Leu330_Cys331insLeu
NM_001102605.1:c.957_959dup	NP_001096075.1:p.Leu320_Cys321insLeu
NM_001142573.1:c.732_734dup	NP_001136045.1:p.Leu245_Cys246insLeu
NM_001142574.1:c.717_719dup	NP_001136046.1:p.Leu240_Cys241insLeu
NM_001142575.1:c.657_659dup	NP_001136047.1:p.Leu220_Cys221insLeu
NM_001142576.1:c.888_890dup	NP_001136048.1:p.Leu297_Cys298insLeu
NM_001304521.1:c.780_782dup	NP_001291450.1:p.Leu261_Cys262insLeu
NM_183243.2:c.879_881dup	NP_899066.1:p.Leu294_Cys295insLeu
XM_005250314.1:c.756_758dup	XP_005250371.1:p.Leu253_Cys254insLeu
XM_006715967.1:c.987_989dup	XP_006716030.1:p.Leu330_Cys331insLeu
XM_006715968.1:c.957_959dup	XP_006716031.1:p.Leu320_Cys321insLeu
XM_006715969.1:c.879_881dup	XP_006716032.1:p.Leu294_Cys295insLeu
XM_006715970.2:c.780_782dup	XP_006716033.1:p.Leu261_Cys262insLeu
XM_006715971.1:c.756_758dup	XP_006716034.1:p.Leu253_Cys254insLeu
XM_011516156.1:c.369_371dup	XP_011514458.1:p.Leu124_Cys125insLeu
XM_011516157.1:c.369_371dup	XP_011514459.1:p.Leu124_Cys125insLeu
XM_017012172.1:c.756_758dup	XP_016867661.1:p.Leu253_Cys254insLeu
XM_017012173.1:c.957_959dup	XP_016867662.1:p.Leu320_Cys321insLeu
XM_024446755.1:c.957_959dup	XP_024302523.1:p.Leu320_Cys321insLeu
XM_024446756.1:c.879_881dup	XP_024302524.1:p.Leu294_Cys295insLeu
XM_024446757.1:c.780_782dup	XP_024302525.1:p.Leu261_Cys262insLeu
XM_024446758.1:c.756_758dup	XP_024302526.1:p.Leu253_Cys254insLeu
NM_000883.4:c.987_989dup MANE Select	NP_000874.2:p.Leu330_Cys331insLeu
NM_001102605.2:c.957_959dup	NP_001096075.1:p.Leu320_Cys321insLeu
NM_001142573.2:c.732_734dup	NP_001136045.1:p.Leu245_Cys246insLeu
NM_001142574.2:c.717_719dup	NP_001136046.1:p.Leu240_Cys241insLeu
NM_001142575.2:c.657_659dup	NP_001136047.1:p.Leu220_Cys221insLeu
NM_001142576.2:c.888_890dup	NP_001136048.1:p.Leu297_Cys298insLeu
NM_001304521.2:c.780_782dup	NP_001291450.1:p.Leu261_Cys262insLeu
NM_183243.3:c.879_881dup	NP_899066.1:p.Leu294_Cys295insLeu