Canonical Allele Identifier: CA391717525

Gene: IVD

Linked Data

• dbSNP Id: rs1359727011
• gnomAD v2: 15-40703781-A-G
• gnomAD v4: 15-40411582-A-G
• MyVariant Identifiers: chr15:g.40703781A>G (hg19) ; chr15:g.40411582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411582A>G , CM000677.2:g.40411582A>G	GRCh38
NC_000015.9:g.40703781A>G , CM000677.1:g.40703781A>G	GRCh37
NC_000015.8:g.38491073A>G	NCBI36
NG_011986.1:g.11096A>G
NG_011986.2:g.11098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.488A>G	ENSP00000417990.3:p.Lys163Arg
ENST00000487418.8:c.578A>G MANE Select	ENSP00000418397.3:p.Lys193Arg
ENST00000650656.1:c.497A>G	ENSP00000498731.1:p.Lys166Arg
ENST00000651168.1:c.587A>G	ENSP00000499074.1:p.Lys196Arg
ENST00000473112.6:c.337A>G
ENST00000479013.6:c.497A>G	ENSP00000417990.2:p.Lys166Arg
ENST00000481262.6:c.184A>G
ENST00000484250.1:n.201A>G
ENST00000487418.6:c.587A>G	ENSP00000418397.2:p.Lys196Arg
ENST00000558610.5:c.530A>G	ENSP00000453821.1:p.Lys177Arg
NM_001159508.1:c.497A>G	NP_001152980.1:p.Lys166Arg
NM_002225.3:c.587A>G	NP_002216.2:p.Lys196Arg
XM_005254350.2:c.587A>G	XP_005254407.1:p.Lys196Arg
XM_005254356.2:c.587A>G	XP_005254413.1:p.Lys196Arg
XM_006720491.2:c.530A>G	XP_006720554.1:p.Lys177Arg
XM_006720492.2:c.587A>G	XP_006720555.1:p.Lys196Arg
XM_006720493.2:c.587A>G	XP_006720556.1:p.Lys196Arg
XM_006720494.2:c.587A>G	XP_006720557.1:p.Lys196Arg
XM_006720495.2:c.587A>G	XP_006720558.1:p.Lys196Arg
XM_011521523.1:c.587A>G	XP_011519825.1:p.Lys196Arg
XM_011521524.1:c.587A>G	XP_011519826.1:p.Lys196Arg
XR_243097.3:n.587A>G
XR_243098.2:n.587A>G
XR_429453.2:n.688A>G
NM_001159508.2:c.488A>G	NP_001152980.2:p.Lys163Arg
NM_001354597.2:c.530A>G	NP_001341526.1:p.Lys177Arg
NM_001354598.2:c.578A>G	NP_001341527.2:p.Lys193Arg
NM_001354599.2:c.665A>G	NP_001341528.2:p.Lys222Arg
NM_001354600.2:c.665A>G	NP_001341529.2:p.Lys222Arg
NM_001354601.2:c.578A>G	NP_001341530.2:p.Lys193Arg
NM_002225.4:c.578A>G	NP_002216.3:p.Lys193Arg
NR_148925.1:n.988A>G
XM_006720495.3:c.587A>G	XP_006720558.1:p.Lys196Arg
XM_017022149.1:c.674A>G	XP_016877638.1:p.Lys225Arg
XM_017022150.1:c.674A>G	XP_016877639.1:p.Lys225Arg
XM_017022153.1:c.674A>G	XP_016877642.1:p.Lys225Arg
XM_017022154.2:c.617A>G	XP_016877643.1:p.Lys206Arg
XM_017022155.2:c.674A>G	XP_016877644.1:p.Lys225Arg
XM_017022157.1:c.674A>G	XP_016877646.1:p.Lys225Arg
XM_017022158.2:c.674A>G	XP_016877647.1:p.Lys225Arg
XR_001751263.1:n.937A>G
XR_001751264.1:n.978A>G
NM_001159508.3:c.488A>G	NP_001152980.2:p.Lys163Arg
NM_001354597.3:c.530A>G	NP_001341526.1:p.Lys177Arg
NM_001354598.3:c.578A>G	NP_001341527.2:p.Lys193Arg
NM_001354599.3:c.665A>G	NP_001341528.2:p.Lys222Arg
NM_001354600.3:c.665A>G	NP_001341529.2:p.Lys222Arg
NM_001354601.3:c.578A>G	NP_001341530.2:p.Lys193Arg
NM_002225.5:c.578A>G MANE Select	NP_002216.3:p.Lys193Arg
NR_148925.2:n.990A>G