Canonical Allele Identifier: CA391717285

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411344G>T , CM000677.2:g.40411344G>T	GRCh38
NC_000015.9:g.40703543G>T , CM000677.1:g.40703543G>T	GRCh37
NC_000015.8:g.38490835G>T	NCBI36
NG_011986.1:g.10858G>T
NG_011986.2:g.10860G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002225.5:c.541G>T MANE Select	NP_002216.3:p.Glu181Ter
ENST00000487418.8:c.541G>T MANE Select	ENSP00000418397.3:p.Glu181Ter
NM_001159508.1:c.460G>T	NP_001152980.1:p.Glu154Ter
NM_001159508.2:c.451G>T	NP_001152980.2:p.Glu151Ter
NM_001159508.3:c.451G>T	NP_001152980.2:p.Glu151Ter
NM_001354597.2:c.493G>T	NP_001341526.1:p.Glu165Ter
NM_001354597.3:c.493G>T	NP_001341526.1:p.Glu165Ter
NM_001354598.2:c.541G>T	NP_001341527.2:p.Glu181Ter
NM_001354598.3:c.541G>T	NP_001341527.2:p.Glu181Ter
NM_001354599.2:c.628G>T	NP_001341528.2:p.Glu210Ter
NM_001354599.3:c.628G>T	NP_001341528.2:p.Glu210Ter
NM_001354600.2:c.628G>T	NP_001341529.2:p.Glu210Ter
NM_001354600.3:c.628G>T	NP_001341529.2:p.Glu210Ter
NM_001354601.2:c.541G>T	NP_001341530.2:p.Glu181Ter
NM_001354601.3:c.541G>T	NP_001341530.2:p.Glu181Ter
NM_002225.3:c.550G>T	NP_002216.2:p.Glu184Ter
NM_002225.4:c.541G>T	NP_002216.3:p.Glu181Ter
NR_148925.1:n.951G>T
NR_148925.2:n.953G>T
ENST00000473112.6:c.300G>T
ENST00000479013.6:c.460G>T	ENSP00000417990.2:p.Glu154Ter
ENST00000479013.7:c.451G>T	ENSP00000417990.3:p.Glu151Ter
ENST00000481262.6:c.147G>T
ENST00000484250.1:n.164G>T
ENST00000487418.6:c.550G>T	ENSP00000418397.2:p.Glu184Ter
ENST00000558610.5:c.493G>T	ENSP00000453821.1:p.Glu165Ter
ENST00000610693.4:c.637G>T	ENSP00000479359.1:p.Glu213Ter
ENST00000610693.5:c.628G>T	ENSP00000479359.2:p.Glu210Ter
ENST00000650656.1:c.460G>T	ENSP00000498731.1:p.Glu154Ter
ENST00000651168.1:c.550G>T	ENSP00000499074.1:p.Glu184Ter
XM_005254350.2:c.550G>T	XP_005254407.1:p.Glu184Ter
XM_005254356.2:c.550G>T	XP_005254413.1:p.Glu184Ter
XM_006720491.2:c.493G>T	XP_006720554.1:p.Glu165Ter
XM_006720492.2:c.550G>T	XP_006720555.1:p.Glu184Ter
XM_006720493.2:c.550G>T	XP_006720556.1:p.Glu184Ter
XM_006720494.2:c.550G>T	XP_006720557.1:p.Glu184Ter
XM_006720495.2:c.550G>T	XP_006720558.1:p.Glu184Ter
XM_006720495.3:c.550G>T	XP_006720558.1:p.Glu184Ter
XM_011521523.1:c.550G>T	XP_011519825.1:p.Glu184Ter
XM_011521524.1:c.550G>T	XP_011519826.1:p.Glu184Ter
XM_017022149.1:c.637G>T	XP_016877638.1:p.Glu213Ter
XM_017022150.1:c.637G>T	XP_016877639.1:p.Glu213Ter
XM_017022153.1:c.637G>T	XP_016877642.1:p.Glu213Ter
XM_017022154.2:c.580G>T	XP_016877643.1:p.Glu194Ter
XM_017022155.2:c.637G>T	XP_016877644.1:p.Glu213Ter
XM_017022157.1:c.637G>T	XP_016877646.1:p.Glu213Ter
XM_017022158.2:c.637G>T	XP_016877647.1:p.Glu213Ter
XR_001751263.1:n.900G>T
XR_001751264.1:n.941G>T
XR_243097.3:n.550G>T
XR_243098.2:n.550G>T
XR_429453.2:n.651G>T