Canonical Allele Identifier: CA391716919
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411260C>A , CM000677.2:g.40411260C>A GRCh38
NC_000015.9:g.40703459C>A , CM000677.1:g.40703459C>A GRCh37
NC_000015.8:g.38490751C>A NCBI36
NG_011986.1:g.10774C>A
NG_011986.2:g.10776C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.367C>A ENSP00000417990.3:p.Leu123Met
ENST00000487418.8:c.457C>A MANE Select ENSP00000418397.3:p.Leu153Met
ENST00000610693.5:c.544C>A ENSP00000479359.2:p.Leu182Met
ENST00000650656.1:c.376C>A ENSP00000498731.1:p.Leu126Met
ENST00000651168.1:c.466C>A ENSP00000499074.1:p.Leu156Met
ENST00000473112.6:c.216C>A
ENST00000479013.6:c.376C>A ENSP00000417990.2:p.Leu126Met
ENST00000481262.6:c.63C>A
ENST00000484250.1:n.80C>A
ENST00000487418.6:c.466C>A ENSP00000418397.2:p.Leu156Met
ENST00000558610.5:c.409C>A ENSP00000453821.1:p.Leu137Met
ENST00000610693.4:c.553C>A ENSP00000479359.1:p.Leu185Met
NM_001159508.1:c.376C>A NP_001152980.1:p.Leu126Met
NM_002225.3:c.466C>A NP_002216.2:p.Leu156Met
XM_005254350.2:c.466C>A XP_005254407.1:p.Leu156Met
XM_005254356.2:c.466C>A XP_005254413.1:p.Leu156Met
XM_006720491.2:c.409C>A XP_006720554.1:p.Leu137Met
XM_006720492.2:c.466C>A XP_006720555.1:p.Leu156Met
XM_006720493.2:c.466C>A XP_006720556.1:p.Leu156Met
XM_006720494.2:c.466C>A XP_006720557.1:p.Leu156Met
XM_006720495.2:c.466C>A XP_006720558.1:p.Leu156Met
XM_011521523.1:c.466C>A XP_011519825.1:p.Leu156Met
XM_011521524.1:c.466C>A XP_011519826.1:p.Leu156Met
XR_243097.3:n.466C>A
XR_243098.2:n.466C>A
XR_429453.2:n.567C>A
NM_001159508.2:c.367C>A NP_001152980.2:p.Leu123Met
NM_001354597.2:c.409C>A NP_001341526.1:p.Leu137Met
NM_001354598.2:c.457C>A NP_001341527.2:p.Leu153Met
NM_001354599.2:c.544C>A NP_001341528.2:p.Leu182Met
NM_001354600.2:c.544C>A NP_001341529.2:p.Leu182Met
NM_001354601.2:c.457C>A NP_001341530.2:p.Leu153Met
NM_002225.4:c.457C>A NP_002216.3:p.Leu153Met
NR_148925.1:n.867C>A
XM_006720495.3:c.466C>A XP_006720558.1:p.Leu156Met
XM_017022149.1:c.553C>A XP_016877638.1:p.Leu185Met
XM_017022150.1:c.553C>A XP_016877639.1:p.Leu185Met
XM_017022153.1:c.553C>A XP_016877642.1:p.Leu185Met
XM_017022154.2:c.496C>A XP_016877643.1:p.Leu166Met
XM_017022155.2:c.553C>A XP_016877644.1:p.Leu185Met
XM_017022157.1:c.553C>A XP_016877646.1:p.Leu185Met
XM_017022158.2:c.553C>A XP_016877647.1:p.Leu185Met
XR_001751263.1:n.816C>A
XR_001751264.1:n.857C>A
NM_001159508.3:c.367C>A NP_001152980.2:p.Leu123Met
NM_001354597.3:c.409C>A NP_001341526.1:p.Leu137Met
NM_001354598.3:c.457C>A NP_001341527.2:p.Leu153Met
NM_001354599.3:c.544C>A NP_001341528.2:p.Leu182Met
NM_001354600.3:c.544C>A NP_001341529.2:p.Leu182Met
NM_001354601.3:c.457C>A NP_001341530.2:p.Leu153Met
NM_002225.5:c.457C>A MANE Select NP_002216.3:p.Leu153Met
NR_148925.2:n.869C>A