Canonical Allele Identifier: CA2171768136

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40416356T= , CM000677.2:g.40416356T=	GRCh38
NC_000015.9:g.40708555T= , CM000677.1:g.40708555T=	GRCh37
NC_000015.8:g.38495847T=	NCBI36
NG_011986.1:g.15870T=
NG_011986.2:g.15872T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.1042T=	ENSP00000417990.3:p.Cys348=
ENST00000487418.8:c.1132T= MANE Select	ENSP00000418397.3:p.Cys378=
ENST00000650656.1:c.1051T=	ENSP00000498731.1:p.Cys351=
ENST00000651168.1:c.1141T=	ENSP00000499074.1:p.Cys381=
ENST00000466756.2:c.83T=
ENST00000473112.6:c.719+874T=
ENST00000479013.6:c.1051T=	ENSP00000417990.2:p.Cys351=
ENST00000481262.6:c.644T=
ENST00000487418.6:c.1141T=	ENSP00000418397.2:p.Cys381=
ENST00000491554.6:c.529T=	ENSP00000453146.1:p.Cys177=
ENST00000497252.5:n.513T=
ENST00000497816.1:n.509T=
ENST00000559575.5:c.95T=
NM_001159508.1:c.1051T=	NP_001152980.1:p.Cys351=
NM_002225.3:c.1141T=	NP_002216.2:p.Cys381=
XM_005254350.2:c.1141T=	XP_005254407.1:p.Cys381=
XM_005254356.2:c.875+874T=	XP_005254413.1:n.875+874T=
XM_006720491.2:c.1084T=	XP_006720554.1:p.Cys362=
XM_006720492.2:c.1141T=	XP_006720555.1:p.Cys381=
XM_006720493.2:c.1141T=	XP_006720556.1:p.Cys381=
XM_006720494.2:c.1141T=	XP_006720557.1:p.Cys381=
XM_006720495.2:c.969+874T=	XP_006720558.1:n.969+874T=
XM_011521523.1:c.1141T=	XP_011519825.1:p.Cys381=
XR_243097.3:n.1047T=
XR_243098.2:n.1047T=
XR_429453.2:n.1242T=
NM_001159508.2:c.1042T=	NP_001152980.2:p.Cys348=
NM_001354597.2:c.1084T=	NP_001341526.1:p.Cys362=
NM_001354598.2:c.1132T=	NP_001341527.2:p.Cys378=
NM_001354599.2:c.1219T=	NP_001341528.2:p.Cys407=
NM_001354600.2:c.1219T=	NP_001341529.2:p.Cys407=
NM_001354601.2:c.1132T=	NP_001341530.2:p.Cys378=
NM_002225.4:c.1132T=	NP_002216.3:p.Cys378=
NR_148925.1:n.1542T=
XM_006720495.3:c.969+874T=	XP_006720558.1:n.969+874T=
XM_017022149.1:c.1228T=	XP_016877638.1:p.Cys410=
XM_017022150.1:c.1228T=	XP_016877639.1:p.Cys410=
XM_017022153.1:c.1228T=	XP_016877642.1:p.Cys410=
XM_017022154.2:c.1171T=	XP_016877643.1:p.Cys391=
XM_017022155.2:c.1228T=	XP_016877644.1:p.Cys410=
XM_017022157.1:c.1056+874T=	XP_016877646.1:n.1056+874T=
XR_001751263.1:n.1491T=
NM_001159508.3:c.1042T=	NP_001152980.2:p.Cys348=
NM_001354597.3:c.1084T=	NP_001341526.1:p.Cys362=
NM_001354598.3:c.1132T=	NP_001341527.2:p.Cys378=
NM_001354599.3:c.1219T=	NP_001341528.2:p.Cys407=
NM_001354600.3:c.1219T=	NP_001341529.2:p.Cys407=
NM_001354601.3:c.1132T=	NP_001341530.2:p.Cys378=
NM_002225.5:c.1132T= MANE Select	NP_002216.3:p.Cys378=
NR_148925.2:n.1544T=