Canonical Allele Identifier: CA430241460

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544060A>G , CM000664.2:g.178544060A>G GRCh38
NC_000002.11:g.179408787A>G , CM000664.1:g.179408787A>G GRCh37
NC_000002.10:g.179117033A>G NCBI36
NG_011618.3:g.291743T>C , LRG_391:g.291743T>C
NG_051363.1:g.26234A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.96084T>C (TTN) MANE Select NP_001254479.2:p.Ala32028=
ENST00000589042.5:c.96084T>C (TTN) MANE Select ENSP00000467141.1:p.Ala32028=
NM_001256850.1:c.91161T>C (TTN) NP_001243779.1:p.Ala30387=
NM_003319.4:c.68889T>C (TTN) NP_003310.4:p.Ala22963=
NM_133378.4:c.88380T>C (TTN) NP_596869.4:p.Ala29460=
NM_133432.3:c.69264T>C (TTN) NP_597676.3:p.Ala23088=
NM_133437.4:c.69465T>C (TTN) NP_597681.4:p.Ala23155=
NR_038271.1:n.446+20424A>G (TTN-AS1)
NR_038272.1:n.2043+1699A>G (TTN-AS1)
ENST00000342175.10:c.69465T>C (TTN) ENSP00000340554.6:p.Ala23155=
ENST00000342175.11:c.69465T>C (TTN) ENSP00000340554.6:p.Ala23155=
ENST00000342992.10:c.88380T>C (TTN) ENSP00000343764.6:p.Ala29460=
ENST00000342992.11:c.88380T>C (TTN) ENSP00000343764.6:p.Ala29460=
ENST00000359218.10:c.69264T>C (TTN) ENSP00000352154.5:p.Ala23088=
ENST00000359218.9:c.69264T>C (TTN) ENSP00000352154.5:p.Ala23088=
ENST00000460472.6:c.68889T>C (TTN) ENSP00000434586.1:p.Ala22963=
ENST00000591111.5:c.91161T>C (TTN) ENSP00000465570.1:p.Ala30387=
ENST00000615779.4:c.91161T>C (TTN) ENSP00000483597.1:p.Ala30387=
XM_011511729.1:c.95181T>C (TTN) XP_011510031.1:p.Ala31727=
XM_011511730.1:c.69075T>C (TTN) XP_011510032.1:p.Ala23025=
XM_011511731.1:c.68934T>C (TTN) XP_011510033.1:p.Ala22978=
XM_017004819.1:c.94977T>C (TTN) XP_016860308.1:p.Ala31659=
XM_017004820.1:c.90375T>C (TTN) XP_016860309.1:p.Ala30125=
XM_017004821.1:c.90372T>C (TTN) XP_016860310.1:p.Ala30124=
XM_017004822.1:c.87414T>C (TTN) XP_016860311.1:p.Ala29138=
XM_017004823.1:c.69030T>C (TTN) XP_016860312.1:p.Ala23010=
XM_024453094.1:c.90525T>C (TTN) XP_024308862.1:p.Ala30175=
XM_024453095.1:c.90522T>C (TTN) XP_024308863.1:p.Ala30174=
XM_024453096.1:c.89955T>C (TTN) XP_024308864.1:p.Ala29985=
XM_024453097.1:c.87297T>C (TTN) XP_024308865.1:p.Ala29099=
XM_024453098.1:c.87216T>C (TTN) XP_024308866.1:p.Ala29072=
XM_024453099.1:c.68979T>C (TTN) XP_024308867.1:p.Ala22993=
XM_024453100.1:c.58833T>C (TTN) XP_024308868.1:p.Ala19611=