Canonical Allele Identifier: CA489745891

Gene: IVD

Linked Data

• MyVariant Identifiers: chr15:g.40710381C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40418182C>A , CM000677.2:g.40418182C>A	GRCh38
NC_000015.9:g.40710381C>A , CM000677.1:g.40710381C>A	GRCh37
NC_000015.8:g.38497673C>A	NCBI36
NG_011986.1:g.17696C>A
NG_011986.2:g.17698C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.1101C>A	ENSP00000417990.3:p.Ala367=
ENST00000487418.8:c.1191C>A MANE Select	ENSP00000418397.3:p.Ala397=
ENST00000650656.1:c.1110C>A	ENSP00000498731.1:p.Ala370=
ENST00000651168.1:c.1200C>A	ENSP00000499074.1:p.Ala400=
ENST00000466756.2:c.89+1820C>A
ENST00000473112.6:c.719+2700C>A
ENST00000479013.6:c.1110C>A	ENSP00000417990.2:p.Ala370=
ENST00000481262.6:c.650+1820C>A
ENST00000487418.6:c.1200C>A	ENSP00000418397.2:p.Ala400=
ENST00000491554.6:c.535+1820C>A	ENSP00000453146.1:n.535+1820C>A
ENST00000497816.1:n.568C>A
ENST00000559575.5:c.102-998C>A
NM_001159508.1:c.1110C>A	NP_001152980.1:p.Ala370=
NM_002225.3:c.1200C>A	NP_002216.2:p.Ala400=
XM_005254350.2:c.1147+1820C>A	XP_005254407.1:n.1147+1820C>A
XM_005254356.2:c.875+2700C>A	XP_005254413.1:n.875+2700C>A
XM_006720491.2:c.1090+1820C>A	XP_006720554.1:n.1090+1820C>A
XM_006720492.2:c.1147+1820C>A	XP_006720555.1:n.1147+1820C>A
XM_006720493.2:c.1147+1820C>A	XP_006720556.1:n.1147+1820C>A
XM_006720494.2:c.1148-998C>A	XP_006720557.1:n.1148-998C>A
XM_006720495.2:c.969+2700C>A	XP_006720558.1:n.969+2700C>A
XM_011521523.1:c.1147+1820C>A	XP_011519825.1:n.1147+1820C>A
XR_243097.3:n.1106C>A
XR_243098.2:n.1053+1820C>A
XR_429453.2:n.1301C>A
NM_001159508.2:c.1101C>A	NP_001152980.2:p.Ala367=
NM_001354597.2:c.1143C>A	NP_001341526.1:p.Ala381=
NM_001354598.2:c.1138+1820C>A	NP_001341527.2:n.1138+1820C>A
NM_001354599.2:c.1278C>A	NP_001341528.2:p.Ala426=
NM_001354600.2:c.1225+1820C>A	NP_001341529.2:n.1225+1820C>A
NM_001354601.2:c.1138+1820C>A	NP_001341530.2:n.1138+1820C>A
NM_002225.4:c.1191C>A	NP_002216.3:p.Ala397=
NR_148925.1:n.1548+1820C>A
XM_006720495.3:c.969+2700C>A	XP_006720558.1:n.969+2700C>A
XM_017022149.1:c.1234+1820C>A	XP_016877638.1:n.1234+1820C>A
XM_017022150.1:c.1234+1820C>A	XP_016877639.1:n.1234+1820C>A
XM_017022153.1:c.1234+1820C>A	XP_016877642.1:n.1234+1820C>A
XM_017022154.2:c.1230C>A	XP_016877643.1:p.Ala410=
XM_017022155.2:c.1235-998C>A	XP_016877644.1:n.1235-998C>A
XM_017022157.1:c.1056+2700C>A	XP_016877646.1:n.1056+2700C>A
XR_001751263.1:n.1550C>A
NM_001159508.3:c.1101C>A	NP_001152980.2:p.Ala367=
NM_001354597.3:c.1143C>A	NP_001341526.1:p.Ala381=
NM_001354598.3:c.1138+1820C>A	NP_001341527.2:n.1138+1820C>A
NM_001354599.3:c.1278C>A	NP_001341528.2:p.Ala426=
NM_001354600.3:c.1225+1820C>A	NP_001341529.2:n.1225+1820C>A
NM_001354601.3:c.1138+1820C>A	NP_001341530.2:n.1138+1820C>A
NM_002225.5:c.1191C>A MANE Select	NP_002216.3:p.Ala397=
NR_148925.2:n.1550+1820C>A