Canonical Allele Identifier: CA2171764278

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40407963C= , CM000677.2:g.40407963C=	GRCh38
NC_000015.9:g.40700162C= , CM000677.1:g.40700162C=	GRCh37
NC_000015.8:g.38487454C=	NCBI36
NG_011986.1:g.7477C=
NG_011986.2:g.7479C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.169C=	ENSP00000417990.3:p.Leu57=
ENST00000487418.8:c.259C= MANE Select	ENSP00000418397.3:p.Leu87=
ENST00000610693.5:c.346C=	ENSP00000479359.2:p.Leu116=
ENST00000650656.1:c.178C=	ENSP00000498731.1:p.Leu60=
ENST00000651168.1:c.268C=	ENSP00000499074.1:p.Leu90=
ENST00000473112.6:c.18C=
ENST00000479013.6:c.178C=	ENSP00000417990.2:p.Leu60=
ENST00000487418.6:c.268C=	ENSP00000418397.2:p.Leu90=
ENST00000558610.5:c.211C=	ENSP00000453821.1:p.Leu71=
ENST00000610693.4:c.355C=	ENSP00000479359.1:p.Leu119=
NM_001159508.1:c.178C=	NP_001152980.1:p.Leu60=
NM_002225.3:c.268C=	NP_002216.2:p.Leu90=
XM_005254350.2:c.268C=	XP_005254407.1:p.Leu90=
XM_005254356.2:c.268C=	XP_005254413.1:p.Leu90=
XM_006720491.2:c.211C=	XP_006720554.1:p.Leu71=
XM_006720492.2:c.268C=	XP_006720555.1:p.Leu90=
XM_006720493.2:c.268C=	XP_006720556.1:p.Leu90=
XM_006720494.2:c.268C=	XP_006720557.1:p.Leu90=
XM_006720495.2:c.268C=	XP_006720558.1:p.Leu90=
XM_011521523.1:c.268C=	XP_011519825.1:p.Leu90=
XM_011521524.1:c.268C=	XP_011519826.1:p.Leu90=
XR_243097.3:n.268C=
XR_243098.2:n.268C=
XR_429453.2:n.369C=
NM_001159508.2:c.169C=	NP_001152980.2:p.Leu57=
NM_001354597.2:c.211C=	NP_001341526.1:p.Leu71=
NM_001354598.2:c.259C=	NP_001341527.2:p.Leu87=
NM_001354599.2:c.346C=	NP_001341528.2:p.Leu116=
NM_001354600.2:c.346C=	NP_001341529.2:p.Leu116=
NM_001354601.2:c.259C=	NP_001341530.2:p.Leu87=
NM_002225.4:c.259C=	NP_002216.3:p.Leu87=
NR_148925.1:n.669C=
XM_006720495.3:c.268C=	XP_006720558.1:p.Leu90=
XM_017022149.1:c.355C=	XP_016877638.1:p.Leu119=
XM_017022150.1:c.355C=	XP_016877639.1:p.Leu119=
XM_017022153.1:c.355C=	XP_016877642.1:p.Leu119=
XM_017022154.2:c.298C=	XP_016877643.1:p.Leu100=
XM_017022155.2:c.355C=	XP_016877644.1:p.Leu119=
XM_017022157.1:c.355C=	XP_016877646.1:p.Leu119=
XM_017022158.2:c.355C=	XP_016877647.1:p.Leu119=
XR_001751263.1:n.618C=
XR_001751264.1:n.659C=
NM_001159508.3:c.169C=	NP_001152980.2:p.Leu57=
NM_001354597.3:c.211C=	NP_001341526.1:p.Leu71=
NM_001354598.3:c.259C=	NP_001341527.2:p.Leu87=
NM_001354599.3:c.346C=	NP_001341528.2:p.Leu116=
NM_001354600.3:c.346C=	NP_001341529.2:p.Leu116=
NM_001354601.3:c.259C=	NP_001341530.2:p.Leu87=
NM_002225.5:c.259C= MANE Select	NP_002216.3:p.Leu87=
NR_148925.2:n.671C=