Canonical Allele Identifier: CA391717256

Gene: IVD

Linked Data

• gnomAD v4: 15-40411339-A-C
• MyVariant Identifiers: chr15:g.40703538A>C (hg19) ; chr15:g.40411339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411339A>C , CM000677.2:g.40411339A>C	GRCh38
NC_000015.9:g.40703538A>C , CM000677.1:g.40703538A>C	GRCh37
NC_000015.8:g.38490830A>C	NCBI36
NG_011986.1:g.10853A>C
NG_011986.2:g.10855A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.446A>C	ENSP00000417990.3:p.Lys149Thr
ENST00000487418.8:c.536A>C MANE Select	ENSP00000418397.3:p.Lys179Thr
ENST00000610693.5:c.623A>C	ENSP00000479359.2:p.Lys208Thr
ENST00000650656.1:c.455A>C	ENSP00000498731.1:p.Lys152Thr
ENST00000651168.1:c.545A>C	ENSP00000499074.1:p.Lys182Thr
ENST00000473112.6:c.295A>C
ENST00000479013.6:c.455A>C	ENSP00000417990.2:p.Lys152Thr
ENST00000481262.6:c.142A>C
ENST00000484250.1:n.159A>C
ENST00000487418.6:c.545A>C	ENSP00000418397.2:p.Lys182Thr
ENST00000558610.5:c.488A>C	ENSP00000453821.1:p.Lys163Thr
ENST00000610693.4:c.632A>C	ENSP00000479359.1:p.Lys211Thr
NM_001159508.1:c.455A>C	NP_001152980.1:p.Lys152Thr
NM_002225.3:c.545A>C	NP_002216.2:p.Lys182Thr
XM_005254350.2:c.545A>C	XP_005254407.1:p.Lys182Thr
XM_005254356.2:c.545A>C	XP_005254413.1:p.Lys182Thr
XM_006720491.2:c.488A>C	XP_006720554.1:p.Lys163Thr
XM_006720492.2:c.545A>C	XP_006720555.1:p.Lys182Thr
XM_006720493.2:c.545A>C	XP_006720556.1:p.Lys182Thr
XM_006720494.2:c.545A>C	XP_006720557.1:p.Lys182Thr
XM_006720495.2:c.545A>C	XP_006720558.1:p.Lys182Thr
XM_011521523.1:c.545A>C	XP_011519825.1:p.Lys182Thr
XM_011521524.1:c.545A>C	XP_011519826.1:p.Lys182Thr
XR_243097.3:n.545A>C
XR_243098.2:n.545A>C
XR_429453.2:n.646A>C
NM_001159508.2:c.446A>C	NP_001152980.2:p.Lys149Thr
NM_001354597.2:c.488A>C	NP_001341526.1:p.Lys163Thr
NM_001354598.2:c.536A>C	NP_001341527.2:p.Lys179Thr
NM_001354599.2:c.623A>C	NP_001341528.2:p.Lys208Thr
NM_001354600.2:c.623A>C	NP_001341529.2:p.Lys208Thr
NM_001354601.2:c.536A>C	NP_001341530.2:p.Lys179Thr
NM_002225.4:c.536A>C	NP_002216.3:p.Lys179Thr
NR_148925.1:n.946A>C
XM_006720495.3:c.545A>C	XP_006720558.1:p.Lys182Thr
XM_017022149.1:c.632A>C	XP_016877638.1:p.Lys211Thr
XM_017022150.1:c.632A>C	XP_016877639.1:p.Lys211Thr
XM_017022153.1:c.632A>C	XP_016877642.1:p.Lys211Thr
XM_017022154.2:c.575A>C	XP_016877643.1:p.Lys192Thr
XM_017022155.2:c.632A>C	XP_016877644.1:p.Lys211Thr
XM_017022157.1:c.632A>C	XP_016877646.1:p.Lys211Thr
XM_017022158.2:c.632A>C	XP_016877647.1:p.Lys211Thr
XR_001751263.1:n.895A>C
XR_001751264.1:n.936A>C
NM_001159508.3:c.446A>C	NP_001152980.2:p.Lys149Thr
NM_001354597.3:c.488A>C	NP_001341526.1:p.Lys163Thr
NM_001354598.3:c.536A>C	NP_001341527.2:p.Lys179Thr
NM_001354599.3:c.623A>C	NP_001341528.2:p.Lys208Thr
NM_001354600.3:c.623A>C	NP_001341529.2:p.Lys208Thr
NM_001354601.3:c.536A>C	NP_001341530.2:p.Lys179Thr
NM_002225.5:c.536A>C MANE Select	NP_002216.3:p.Lys179Thr
NR_148925.2:n.948A>C