Canonical Allele Identifier: CA1995716
Community Standard Title: NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630300G>A , CM000664.2:g.178630300G>A GRCh38
NC_000002.11:g.179495027G>A , CM000664.1:g.179495027G>A GRCh37
NC_000002.10:g.179203272G>A NCBI36
NG_011618.3:g.205503C>T , LRG_391:g.205503C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44222C>T MANE Select NP_001254479.2:p.Thr14741Met
ENST00000589042.5:c.44222C>T MANE Select ENSP00000467141.1:p.Thr14741Met
NM_001256850.1:c.39299C>T NP_001243779.1:p.Thr13100Met
NM_003319.4:c.17027C>T NP_003310.4:p.Thr5676Met
NM_133378.4:c.36518C>T NP_596869.4:p.Thr12173Met
NM_133432.3:c.17402C>T NP_597676.3:p.Thr5801Met
NM_133437.4:c.17603C>T NP_597681.4:p.Thr5868Met
ENST00000342175.10:c.17603C>T ENSP00000340554.6:p.Thr5868Met
ENST00000342175.11:c.17603C>T ENSP00000340554.6:p.Thr5868Met
ENST00000342992.10:c.36518C>T ENSP00000343764.6:p.Thr12173Met
ENST00000342992.11:c.36518C>T ENSP00000343764.6:p.Thr12173Met
ENST00000359218.10:c.17402C>T ENSP00000352154.5:p.Thr5801Met
ENST00000359218.9:c.17402C>T ENSP00000352154.5:p.Thr5801Met
ENST00000460472.6:c.17027C>T ENSP00000434586.1:p.Thr5676Met
ENST00000591111.5:c.39299C>T ENSP00000465570.1:p.Thr13100Met
ENST00000615779.4:c.39299C>T ENSP00000483597.1:p.Thr13100Met
XM_011511729.1:c.43319C>T XP_011510031.1:p.Thr14440Met
XM_011511730.1:c.17213C>T XP_011510032.1:p.Thr5738Met
XM_011511731.1:c.17072C>T XP_011510033.1:p.Thr5691Met
XM_017004819.1:c.43115C>T XP_016860308.1:p.Thr14372Met
XM_017004820.1:c.38513C>T XP_016860309.1:p.Thr12838Met
XM_017004821.1:c.38510C>T XP_016860310.1:p.Thr12837Met
XM_017004822.1:c.35552C>T XP_016860311.1:p.Thr11851Met
XM_017004823.1:c.17168C>T XP_016860312.1:p.Thr5723Met
XM_024453094.1:c.38663C>T XP_024308862.1:p.Thr12888Met
XM_024453095.1:c.38660C>T XP_024308863.1:p.Thr12887Met
XM_024453096.1:c.38093C>T XP_024308864.1:p.Thr12698Met
XM_024453097.1:c.35435C>T XP_024308865.1:p.Thr11812Met
XM_024453098.1:c.35354C>T XP_024308866.1:p.Thr11785Met
XM_024453099.1:c.17117C>T XP_024308867.1:p.Thr5706Met
XM_024453100.1:c.6971C>T XP_024308868.1:p.Thr2324Met