Canonical Allele Identifier: CA391717571

Gene: IVD

Linked Data

• MyVariant Identifiers: chr15:g.40703789A>T (hg19) ; chr15:g.40411590A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411590A>T , CM000677.2:g.40411590A>T	GRCh38
NC_000015.9:g.40703789A>T , CM000677.1:g.40703789A>T	GRCh37
NC_000015.8:g.38491081A>T	NCBI36
NG_011986.1:g.11104A>T
NG_011986.2:g.11106A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.496A>T	ENSP00000417990.3:p.Ile166Phe
ENST00000487418.8:c.586A>T MANE Select	ENSP00000418397.3:p.Ile196Phe
ENST00000650656.1:c.505A>T	ENSP00000498731.1:p.Ile169Phe
ENST00000651168.1:c.595A>T	ENSP00000499074.1:p.Ile199Phe
ENST00000473112.6:c.345A>T
ENST00000479013.6:c.505A>T	ENSP00000417990.2:p.Ile169Phe
ENST00000481262.6:c.192A>T
ENST00000484250.1:n.209A>T
ENST00000487418.6:c.595A>T	ENSP00000418397.2:p.Ile199Phe
ENST00000558610.5:c.538A>T	ENSP00000453821.1:p.Ile180Phe
NM_001159508.1:c.505A>T	NP_001152980.1:p.Ile169Phe
NM_002225.3:c.595A>T	NP_002216.2:p.Ile199Phe
XM_005254350.2:c.595A>T	XP_005254407.1:p.Ile199Phe
XM_005254356.2:c.595A>T	XP_005254413.1:p.Ile199Phe
XM_006720491.2:c.538A>T	XP_006720554.1:p.Ile180Phe
XM_006720492.2:c.595A>T	XP_006720555.1:p.Ile199Phe
XM_006720493.2:c.595A>T	XP_006720556.1:p.Ile199Phe
XM_006720494.2:c.595A>T	XP_006720557.1:p.Ile199Phe
XM_006720495.2:c.595A>T	XP_006720558.1:p.Ile199Phe
XM_011521523.1:c.595A>T	XP_011519825.1:p.Ile199Phe
XM_011521524.1:c.595A>T	XP_011519826.1:p.Ile199Phe
XR_243097.3:n.595A>T
XR_243098.2:n.595A>T
XR_429453.2:n.696A>T
NM_001159508.2:c.496A>T	NP_001152980.2:p.Ile166Phe
NM_001354597.2:c.538A>T	NP_001341526.1:p.Ile180Phe
NM_001354598.2:c.586A>T	NP_001341527.2:p.Ile196Phe
NM_001354599.2:c.673A>T	NP_001341528.2:p.Ile225Phe
NM_001354600.2:c.673A>T	NP_001341529.2:p.Ile225Phe
NM_001354601.2:c.586A>T	NP_001341530.2:p.Ile196Phe
NM_002225.4:c.586A>T	NP_002216.3:p.Ile196Phe
NR_148925.1:n.996A>T
XM_006720495.3:c.595A>T	XP_006720558.1:p.Ile199Phe
XM_017022149.1:c.682A>T	XP_016877638.1:p.Ile228Phe
XM_017022150.1:c.682A>T	XP_016877639.1:p.Ile228Phe
XM_017022153.1:c.682A>T	XP_016877642.1:p.Ile228Phe
XM_017022154.2:c.625A>T	XP_016877643.1:p.Ile209Phe
XM_017022155.2:c.682A>T	XP_016877644.1:p.Ile228Phe
XM_017022157.1:c.682A>T	XP_016877646.1:p.Ile228Phe
XM_017022158.2:c.682A>T	XP_016877647.1:p.Ile228Phe
XR_001751263.1:n.945A>T
XR_001751264.1:n.986A>T
NM_001159508.3:c.496A>T	NP_001152980.2:p.Ile166Phe
NM_001354597.3:c.538A>T	NP_001341526.1:p.Ile180Phe
NM_001354598.3:c.586A>T	NP_001341527.2:p.Ile196Phe
NM_001354599.3:c.673A>T	NP_001341528.2:p.Ile225Phe
NM_001354600.3:c.673A>T	NP_001341529.2:p.Ile225Phe
NM_001354601.3:c.586A>T	NP_001341530.2:p.Ile196Phe
NM_002225.5:c.586A>T MANE Select	NP_002216.3:p.Ile196Phe
NR_148925.2:n.998A>T