Canonical Allele Identifier: CA349410942
Community Standard Title: NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531836T>A , CM000664.2:g.178531836T>A GRCh38
NC_000002.11:g.179396563T>A , CM000664.1:g.179396563T>A GRCh37
NC_000002.10:g.179104809T>A NCBI36
NG_011618.3:g.303967A>T , LRG_391:g.303967A>T
NG_051363.1:g.14010T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104779A>T (TTN) MANE Select NP_001254479.2:p.Lys34927Ter
ENST00000589042.5:c.104779A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34927Ter
NM_001256850.1:c.99856A>T (TTN) NP_001243779.1:p.Lys33286Ter
NM_003319.4:c.77584A>T (TTN) NP_003310.4:p.Lys25862Ter
NM_133378.4:c.97075A>T (TTN) NP_596869.4:p.Lys32359Ter
NM_133432.3:c.77959A>T (TTN) NP_597676.3:p.Lys25987Ter
NM_133437.4:c.78160A>T (TTN) NP_597681.4:p.Lys26054Ter
NR_038271.1:n.446+8200T>A (TTN-AS1)
NR_038272.1:n.220-3896T>A (TTN-AS1)
ENST00000342175.10:c.78160A>T (TTN) ENSP00000340554.6:p.Lys26054Ter
ENST00000342175.11:c.78160A>T (TTN) ENSP00000340554.6:p.Lys26054Ter
ENST00000342992.10:c.97075A>T (TTN) ENSP00000343764.6:p.Lys32359Ter
ENST00000342992.11:c.97075A>T (TTN) ENSP00000343764.6:p.Lys32359Ter
ENST00000359218.10:c.77959A>T (TTN) ENSP00000352154.5:p.Lys25987Ter
ENST00000359218.9:c.77959A>T (TTN) ENSP00000352154.5:p.Lys25987Ter
ENST00000460472.6:c.77584A>T (TTN) ENSP00000434586.1:p.Lys25862Ter
ENST00000591111.5:c.99856A>T (TTN) ENSP00000465570.1:p.Lys33286Ter
ENST00000615779.4:c.99856A>T (TTN) ENSP00000483597.1:p.Lys33286Ter
XM_011511729.1:c.103876A>T (TTN) XP_011510031.1:p.Lys34626Ter
XM_011511730.1:c.77770A>T (TTN) XP_011510032.1:p.Lys25924Ter
XM_011511731.1:c.77629A>T (TTN) XP_011510033.1:p.Lys25877Ter
XM_017004819.1:c.103672A>T (TTN) XP_016860308.1:p.Lys34558Ter
XM_017004820.1:c.99070A>T (TTN) XP_016860309.1:p.Lys33024Ter
XM_017004821.1:c.99067A>T (TTN) XP_016860310.1:p.Lys33023Ter
XM_017004822.1:c.96109A>T (TTN) XP_016860311.1:p.Lys32037Ter
XM_017004823.1:c.77725A>T (TTN) XP_016860312.1:p.Lys25909Ter
XM_024453094.1:c.99220A>T (TTN) XP_024308862.1:p.Lys33074Ter
XM_024453095.1:c.99217A>T (TTN) XP_024308863.1:p.Lys33073Ter
XM_024453096.1:c.98650A>T (TTN) XP_024308864.1:p.Lys32884Ter
XM_024453097.1:c.95992A>T (TTN) XP_024308865.1:p.Lys31998Ter
XM_024453098.1:c.95911A>T (TTN) XP_024308866.1:p.Lys31971Ter
XM_024453099.1:c.77674A>T (TTN) XP_024308867.1:p.Lys25892Ter
XM_024453100.1:c.67528A>T (TTN) XP_024308868.1:p.Lys22510Ter