Canonical Allele Identifier: CA391722990
Community Standard Title: NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40416126C>G , CM000677.2:g.40416126C>G GRCh38
NC_000015.9:g.40708325C>G , CM000677.1:g.40708325C>G GRCh37
NC_000015.8:g.38495617C>G NCBI36
NG_011986.1:g.15640C>G
NG_011986.2:g.15642C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002225.5:c.1009C>G MANE Select NP_002216.3:p.Arg337Gly
ENST00000487418.8:c.1009C>G MANE Select ENSP00000418397.3:p.Arg337Gly
NM_001159508.1:c.928C>G NP_001152980.1:p.Arg310Gly
NM_001159508.2:c.919C>G NP_001152980.2:p.Arg307Gly
NM_001159508.3:c.919C>G NP_001152980.2:p.Arg307Gly
NM_001354597.2:c.961C>G NP_001341526.1:p.Arg321Gly
NM_001354597.3:c.961C>G NP_001341526.1:p.Arg321Gly
NM_001354598.2:c.1009C>G NP_001341527.2:p.Arg337Gly
NM_001354598.3:c.1009C>G NP_001341527.2:p.Arg337Gly
NM_001354599.2:c.1096C>G NP_001341528.2:p.Arg366Gly
NM_001354599.3:c.1096C>G NP_001341528.2:p.Arg366Gly
NM_001354600.2:c.1096C>G NP_001341529.2:p.Arg366Gly
NM_001354600.3:c.1096C>G NP_001341529.2:p.Arg366Gly
NM_001354601.2:c.1009C>G NP_001341530.2:p.Arg337Gly
NM_001354601.3:c.1009C>G NP_001341530.2:p.Arg337Gly
NM_002225.3:c.1018C>G NP_002216.2:p.Arg340Gly
NM_002225.4:c.1009C>G NP_002216.3:p.Arg337Gly
NR_148925.1:n.1419C>G
NR_148925.2:n.1421C>G
ENST00000473112.6:c.719+644C>G
ENST00000479013.6:c.928C>G ENSP00000417990.2:p.Arg310Gly
ENST00000479013.7:c.919C>G ENSP00000417990.3:p.Arg307Gly
ENST00000481262.6:c.521C>G
ENST00000487418.6:c.1018C>G ENSP00000418397.2:p.Arg340Gly
ENST00000491554.6:c.406C>G ENSP00000453146.1:p.Arg136Gly
ENST00000497252.5:n.390C>G
ENST00000497816.1:n.386C>G
ENST00000650656.1:c.928C>G ENSP00000498731.1:p.Arg310Gly
ENST00000651168.1:c.1018C>G ENSP00000499074.1:p.Arg340Gly
XM_005254350.2:c.1018C>G XP_005254407.1:p.Arg340Gly
XM_005254356.2:c.875+644C>G XP_005254413.1:n.875+644C>G
XM_006720491.2:c.961C>G XP_006720554.1:p.Arg321Gly
XM_006720492.2:c.1018C>G XP_006720555.1:p.Arg340Gly
XM_006720493.2:c.1018C>G XP_006720556.1:p.Arg340Gly
XM_006720494.2:c.1018C>G XP_006720557.1:p.Arg340Gly
XM_006720495.2:c.969+644C>G XP_006720558.1:n.969+644C>G
XM_006720495.3:c.969+644C>G XP_006720558.1:n.969+644C>G
XM_011521523.1:c.1018C>G XP_011519825.1:p.Arg340Gly
XM_017022149.1:c.1105C>G XP_016877638.1:p.Arg369Gly
XM_017022150.1:c.1105C>G XP_016877639.1:p.Arg369Gly
XM_017022153.1:c.1105C>G XP_016877642.1:p.Arg369Gly
XM_017022154.2:c.1048C>G XP_016877643.1:p.Arg350Gly
XM_017022155.2:c.1105C>G XP_016877644.1:p.Arg369Gly
XM_017022157.1:c.1056+644C>G XP_016877646.1:n.1056+644C>G
XR_001751263.1:n.1368C>G
XR_001751264.1:n.1475C>G
XR_243097.3:n.924C>G
XR_243098.2:n.924C>G
XR_429453.2:n.1119C>G