Canonical Allele Identifier: CA349441080
Community Standard Title: NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542493C>T , CM000664.2:g.178542493C>T GRCh38
NC_000002.11:g.179407220C>T , CM000664.1:g.179407220C>T GRCh37
NC_000002.10:g.179115466C>T NCBI36
NG_011618.3:g.293310G>A , LRG_391:g.293310G>A
NG_051363.1:g.24667C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97263G>A (TTN) MANE Select NP_001254479.2:p.Trp32421Ter
ENST00000589042.5:c.97263G>A (TTN) MANE Select ENSP00000467141.1:p.Trp32421Ter
NM_001256850.1:c.92340G>A (TTN) NP_001243779.1:p.Trp30780Ter
NM_003319.4:c.70068G>A (TTN) NP_003310.4:p.Trp23356Ter
NM_133378.4:c.89559G>A (TTN) NP_596869.4:p.Trp29853Ter
NM_133432.3:c.70443G>A (TTN) NP_597676.3:p.Trp23481Ter
NM_133437.4:c.70644G>A (TTN) NP_597681.4:p.Trp23548Ter
NR_038271.1:n.446+18857C>T (TTN-AS1)
NR_038272.1:n.2043+132C>T (TTN-AS1)
ENST00000342175.10:c.70644G>A (TTN) ENSP00000340554.6:p.Trp23548Ter
ENST00000342175.11:c.70644G>A (TTN) ENSP00000340554.6:p.Trp23548Ter
ENST00000342992.10:c.89559G>A (TTN) ENSP00000343764.6:p.Trp29853Ter
ENST00000342992.11:c.89559G>A (TTN) ENSP00000343764.6:p.Trp29853Ter
ENST00000359218.10:c.70443G>A (TTN) ENSP00000352154.5:p.Trp23481Ter
ENST00000359218.9:c.70443G>A (TTN) ENSP00000352154.5:p.Trp23481Ter
ENST00000460472.6:c.70068G>A (TTN) ENSP00000434586.1:p.Trp23356Ter
ENST00000591111.5:c.92340G>A (TTN) ENSP00000465570.1:p.Trp30780Ter
ENST00000615779.4:c.92340G>A (TTN) ENSP00000483597.1:p.Trp30780Ter
XM_011511729.1:c.96360G>A (TTN) XP_011510031.1:p.Trp32120Ter
XM_011511730.1:c.70254G>A (TTN) XP_011510032.1:p.Trp23418Ter
XM_011511731.1:c.70113G>A (TTN) XP_011510033.1:p.Trp23371Ter
XM_017004819.1:c.96156G>A (TTN) XP_016860308.1:p.Trp32052Ter
XM_017004820.1:c.91554G>A (TTN) XP_016860309.1:p.Trp30518Ter
XM_017004821.1:c.91551G>A (TTN) XP_016860310.1:p.Trp30517Ter
XM_017004822.1:c.88593G>A (TTN) XP_016860311.1:p.Trp29531Ter
XM_017004823.1:c.70209G>A (TTN) XP_016860312.1:p.Trp23403Ter
XM_024453094.1:c.91704G>A (TTN) XP_024308862.1:p.Trp30568Ter
XM_024453095.1:c.91701G>A (TTN) XP_024308863.1:p.Trp30567Ter
XM_024453096.1:c.91134G>A (TTN) XP_024308864.1:p.Trp30378Ter
XM_024453097.1:c.88476G>A (TTN) XP_024308865.1:p.Trp29492Ter
XM_024453098.1:c.88395G>A (TTN) XP_024308866.1:p.Trp29465Ter
XM_024453099.1:c.70158G>A (TTN) XP_024308867.1:p.Trp23386Ter
XM_024453100.1:c.60012G>A (TTN) XP_024308868.1:p.Trp20004Ter