Canonical Allele Identifier: CA2171765956

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411617C= , CM000677.2:g.40411617C=	GRCh38
NC_000015.9:g.40703816C= , CM000677.1:g.40703816C=	GRCh37
NC_000015.8:g.38491108C=	NCBI36
NG_011986.1:g.11131C=
NG_011986.2:g.11133C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.523C=	ENSP00000417990.3:p.Leu175=
ENST00000487418.8:c.613C= MANE Select	ENSP00000418397.3:p.Leu205=
ENST00000650656.1:c.532C=	ENSP00000498731.1:p.Leu178=
ENST00000651168.1:c.622C=	ENSP00000499074.1:p.Leu208=
ENST00000473112.6:c.372C=
ENST00000479013.6:c.532C=	ENSP00000417990.2:p.Leu178=
ENST00000481262.6:c.219C=
ENST00000484250.1:n.236C=
ENST00000487418.6:c.622C=	ENSP00000418397.2:p.Leu208=
ENST00000491554.6:c.10C=	ENSP00000453146.1:p.Leu4=
ENST00000558610.5:c.565C=	ENSP00000453821.1:p.Leu189=
NM_001159508.1:c.532C=	NP_001152980.1:p.Leu178=
NM_002225.3:c.622C=	NP_002216.2:p.Leu208=
XM_005254350.2:c.622C=	XP_005254407.1:p.Leu208=
XM_005254356.2:c.622C=	XP_005254413.1:p.Leu208=
XM_006720491.2:c.565C=	XP_006720554.1:p.Leu189=
XM_006720492.2:c.622C=	XP_006720555.1:p.Leu208=
XM_006720493.2:c.622C=	XP_006720556.1:p.Leu208=
XM_006720494.2:c.622C=	XP_006720557.1:p.Leu208=
XM_006720495.2:c.622C=	XP_006720558.1:p.Leu208=
XM_011521523.1:c.622C=	XP_011519825.1:p.Leu208=
XM_011521524.1:c.622C=	XP_011519826.1:p.Leu208=
XR_243097.3:n.622C=
XR_243098.2:n.622C=
XR_429453.2:n.723C=
NM_001159508.2:c.523C=	NP_001152980.2:p.Leu175=
NM_001354597.2:c.565C=	NP_001341526.1:p.Leu189=
NM_001354598.2:c.613C=	NP_001341527.2:p.Leu205=
NM_001354599.2:c.700C=	NP_001341528.2:p.Leu234=
NM_001354600.2:c.700C=	NP_001341529.2:p.Leu234=
NM_001354601.2:c.613C=	NP_001341530.2:p.Leu205=
NM_002225.4:c.613C=	NP_002216.3:p.Leu205=
NR_148925.1:n.1023C=
XM_006720495.3:c.622C=	XP_006720558.1:p.Leu208=
XM_017022149.1:c.709C=	XP_016877638.1:p.Leu237=
XM_017022150.1:c.709C=	XP_016877639.1:p.Leu237=
XM_017022153.1:c.709C=	XP_016877642.1:p.Leu237=
XM_017022154.2:c.652C=	XP_016877643.1:p.Leu218=
XM_017022155.2:c.709C=	XP_016877644.1:p.Leu237=
XM_017022157.1:c.709C=	XP_016877646.1:p.Leu237=
XM_017022158.2:c.709C=	XP_016877647.1:p.Leu237=
XR_001751263.1:n.972C=
XR_001751264.1:n.1013C=
NM_001159508.3:c.523C=	NP_001152980.2:p.Leu175=
NM_001354597.3:c.565C=	NP_001341526.1:p.Leu189=
NM_001354598.3:c.613C=	NP_001341527.2:p.Leu205=
NM_001354599.3:c.700C=	NP_001341528.2:p.Leu234=
NM_001354600.3:c.700C=	NP_001341529.2:p.Leu234=
NM_001354601.3:c.613C=	NP_001341530.2:p.Leu205=
NM_002225.5:c.613C= MANE Select	NP_002216.3:p.Leu205=
NR_148925.2:n.1025C=