Canonical Allele Identifier: CA7480762

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40414954C>T , CM000677.2:g.40414954C>T	GRCh38
NC_000015.9:g.40707153C>T , CM000677.1:g.40707153C>T	GRCh37
NC_000015.8:g.38494445C>T	NCBI36
NG_011986.1:g.14468C>T
NG_011986.2:g.14470C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002225.5:c.850C>T MANE Select	NP_002216.3:p.Arg284Trp
ENST00000487418.8:c.850C>T MANE Select	ENSP00000418397.3:p.Arg284Trp
NM_001159508.1:c.769C>T	NP_001152980.1:p.Arg257Trp
NM_001159508.2:c.760C>T	NP_001152980.2:p.Arg254Trp
NM_001159508.3:c.760C>T	NP_001152980.2:p.Arg254Trp
NM_001354597.2:c.802C>T	NP_001341526.1:p.Arg268Trp
NM_001354597.3:c.802C>T	NP_001341526.1:p.Arg268Trp
NM_001354598.2:c.850C>T	NP_001341527.2:p.Arg284Trp
NM_001354598.3:c.850C>T	NP_001341527.2:p.Arg284Trp
NM_001354599.2:c.937C>T	NP_001341528.2:p.Arg313Trp
NM_001354599.3:c.937C>T	NP_001341528.2:p.Arg313Trp
NM_001354600.2:c.937C>T	NP_001341529.2:p.Arg313Trp
NM_001354600.3:c.937C>T	NP_001341529.2:p.Arg313Trp
NM_001354601.2:c.850C>T	NP_001341530.2:p.Arg284Trp
NM_001354601.3:c.850C>T	NP_001341530.2:p.Arg284Trp
NM_002225.3:c.859C>T	NP_002216.2:p.Arg287Trp
NM_002225.4:c.850C>T	NP_002216.3:p.Arg284Trp
NR_148925.1:n.1260C>T
NR_148925.2:n.1262C>T
ENST00000473112.6:c.609C>T
ENST00000479013.6:c.769C>T	ENSP00000417990.2:p.Arg257Trp
ENST00000479013.7:c.760C>T	ENSP00000417990.3:p.Arg254Trp
ENST00000481262.6:c.391-447C>T
ENST00000487418.6:c.859C>T	ENSP00000418397.2:p.Arg287Trp
ENST00000491554.6:c.247C>T	ENSP00000453146.1:p.Arg83Trp
ENST00000497252.5:n.231C>T
ENST00000560660.1:n.549C>T
ENST00000650656.1:c.769C>T	ENSP00000498731.1:p.Arg257Trp
ENST00000651168.1:c.859C>T	ENSP00000499074.1:p.Arg287Trp
XM_005254350.2:c.859C>T	XP_005254407.1:p.Arg287Trp
XM_005254356.2:c.794-447C>T	XP_005254413.1:n.794-447C>T
XM_006720491.2:c.802C>T	XP_006720554.1:p.Arg268Trp
XM_006720492.2:c.859C>T	XP_006720555.1:p.Arg287Trp
XM_006720493.2:c.859C>T	XP_006720556.1:p.Arg287Trp
XM_006720494.2:c.859C>T	XP_006720557.1:p.Arg287Trp
XM_006720495.2:c.859C>T	XP_006720558.1:p.Arg287Trp
XM_006720495.3:c.859C>T	XP_006720558.1:p.Arg287Trp
XM_011521523.1:c.859C>T	XP_011519825.1:p.Arg287Trp
XM_017022149.1:c.946C>T	XP_016877638.1:p.Arg316Trp
XM_017022150.1:c.946C>T	XP_016877639.1:p.Arg316Trp
XM_017022153.1:c.946C>T	XP_016877642.1:p.Arg316Trp
XM_017022154.2:c.889C>T	XP_016877643.1:p.Arg297Trp
XM_017022155.2:c.946C>T	XP_016877644.1:p.Arg316Trp
XM_017022157.1:c.946C>T	XP_016877646.1:p.Arg316Trp
XR_001751263.1:n.1209C>T
XR_001751264.1:n.1316C>T
XR_243097.3:n.794-447C>T
XR_243098.2:n.794-447C>T
XR_429453.2:n.960C>T