Canonical Allele Identifier: CA349430085
Community Standard Title: NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582448C>T , CM000664.2:g.178582448C>T GRCh38
NC_000002.11:g.179447175C>T , CM000664.1:g.179447175C>T GRCh37
NC_000002.10:g.179155421C>T NCBI36
NG_011618.3:g.253355G>A , LRG_391:g.253355G>A
NG_051363.1:g.64622C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66008G>A (TTN) MANE Select NP_001254479.2:p.Trp22003Ter
ENST00000589042.5:c.66008G>A (TTN) MANE Select ENSP00000467141.1:p.Trp22003Ter
NM_001256850.1:c.61085G>A (TTN) NP_001243779.1:p.Trp20362Ter
NM_003319.4:c.38813G>A (TTN) NP_003310.4:p.Trp12938Ter
NM_133378.4:c.58304G>A (TTN) NP_596869.4:p.Trp19435Ter
NM_133432.3:c.39188G>A (TTN) NP_597676.3:p.Trp13063Ter
NM_133437.4:c.39389G>A (TTN) NP_597681.4:p.Trp13130Ter
NR_038271.1:n.596+10999C>T (TTN-AS1)
NR_038272.1:n.2044-124C>T (TTN-AS1)
ENST00000342175.10:c.39389G>A (TTN) ENSP00000340554.6:p.Trp13130Ter
ENST00000342175.11:c.39389G>A (TTN) ENSP00000340554.6:p.Trp13130Ter
ENST00000342992.10:c.58304G>A (TTN) ENSP00000343764.6:p.Trp19435Ter
ENST00000342992.11:c.58304G>A (TTN) ENSP00000343764.6:p.Trp19435Ter
ENST00000359218.10:c.39188G>A (TTN) ENSP00000352154.5:p.Trp13063Ter
ENST00000359218.9:c.39188G>A (TTN) ENSP00000352154.5:p.Trp13063Ter
ENST00000460472.6:c.38813G>A (TTN) ENSP00000434586.1:p.Trp12938Ter
ENST00000591111.5:c.61085G>A (TTN) ENSP00000465570.1:p.Trp20362Ter
ENST00000615779.4:c.61085G>A (TTN) ENSP00000483597.1:p.Trp20362Ter
XM_011511729.1:c.65105G>A (TTN) XP_011510031.1:p.Trp21702Ter
XM_011511730.1:c.38999G>A (TTN) XP_011510032.1:p.Trp13000Ter
XM_011511731.1:c.38858G>A (TTN) XP_011510033.1:p.Trp12953Ter
XM_017004819.1:c.64901G>A (TTN) XP_016860308.1:p.Trp21634Ter
XM_017004820.1:c.60299G>A (TTN) XP_016860309.1:p.Trp20100Ter
XM_017004821.1:c.60296G>A (TTN) XP_016860310.1:p.Trp20099Ter
XM_017004822.1:c.57338G>A (TTN) XP_016860311.1:p.Trp19113Ter
XM_017004823.1:c.38954G>A (TTN) XP_016860312.1:p.Trp12985Ter
XM_024453094.1:c.60449G>A (TTN) XP_024308862.1:p.Trp20150Ter
XM_024453095.1:c.60446G>A (TTN) XP_024308863.1:p.Trp20149Ter
XM_024453096.1:c.59879G>A (TTN) XP_024308864.1:p.Trp19960Ter
XM_024453097.1:c.57221G>A (TTN) XP_024308865.1:p.Trp19074Ter
XM_024453098.1:c.57140G>A (TTN) XP_024308866.1:p.Trp19047Ter
XM_024453099.1:c.38903G>A (TTN) XP_024308867.1:p.Trp12968Ter
XM_024453100.1:c.28757G>A (TTN) XP_024308868.1:p.Trp9586Ter