Canonical Allele Identifier: CA349419871
Community Standard Title: NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534928G>T , CM000664.2:g.178534928G>T GRCh38
NC_000002.11:g.179399655G>T , CM000664.1:g.179399655G>T GRCh37
NC_000002.10:g.179107901G>T NCBI36
NG_011618.3:g.300875C>A , LRG_391:g.300875C>A
NG_051363.1:g.17102G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101687C>A (TTN) MANE Select NP_001254479.2:p.Ser33896Ter
ENST00000589042.5:c.101687C>A (TTN) MANE Select ENSP00000467141.1:p.Ser33896Ter
NM_001256850.1:c.96764C>A (TTN) NP_001243779.1:p.Ser32255Ter
NM_003319.4:c.74492C>A (TTN) NP_003310.4:p.Ser24831Ter
NM_133378.4:c.93983C>A (TTN) NP_596869.4:p.Ser31328Ter
NM_133432.3:c.74867C>A (TTN) NP_597676.3:p.Ser24956Ter
NM_133437.4:c.75068C>A (TTN) NP_597681.4:p.Ser25023Ter
NR_038271.1:n.446+11292G>T (TTN-AS1)
NR_038272.1:n.220-804G>T (TTN-AS1)
ENST00000342175.10:c.75068C>A (TTN) ENSP00000340554.6:p.Ser25023Ter
ENST00000342175.11:c.75068C>A (TTN) ENSP00000340554.6:p.Ser25023Ter
ENST00000342992.10:c.93983C>A (TTN) ENSP00000343764.6:p.Ser31328Ter
ENST00000342992.11:c.93983C>A (TTN) ENSP00000343764.6:p.Ser31328Ter
ENST00000359218.10:c.74867C>A (TTN) ENSP00000352154.5:p.Ser24956Ter
ENST00000359218.9:c.74867C>A (TTN) ENSP00000352154.5:p.Ser24956Ter
ENST00000460472.6:c.74492C>A (TTN) ENSP00000434586.1:p.Ser24831Ter
ENST00000591111.5:c.96764C>A (TTN) ENSP00000465570.1:p.Ser32255Ter
ENST00000615779.4:c.96764C>A (TTN) ENSP00000483597.1:p.Ser32255Ter
XM_011511729.1:c.100784C>A (TTN) XP_011510031.1:p.Ser33595Ter
XM_011511730.1:c.74678C>A (TTN) XP_011510032.1:p.Ser24893Ter
XM_011511731.1:c.74537C>A (TTN) XP_011510033.1:p.Ser24846Ter
XM_017004819.1:c.100580C>A (TTN) XP_016860308.1:p.Ser33527Ter
XM_017004820.1:c.95978C>A (TTN) XP_016860309.1:p.Ser31993Ter
XM_017004821.1:c.95975C>A (TTN) XP_016860310.1:p.Ser31992Ter
XM_017004822.1:c.93017C>A (TTN) XP_016860311.1:p.Ser31006Ter
XM_017004823.1:c.74633C>A (TTN) XP_016860312.1:p.Ser24878Ter
XM_024453094.1:c.96128C>A (TTN) XP_024308862.1:p.Ser32043Ter
XM_024453095.1:c.96125C>A (TTN) XP_024308863.1:p.Ser32042Ter
XM_024453096.1:c.95558C>A (TTN) XP_024308864.1:p.Ser31853Ter
XM_024453097.1:c.92900C>A (TTN) XP_024308865.1:p.Ser30967Ter
XM_024453098.1:c.92819C>A (TTN) XP_024308866.1:p.Ser30940Ter
XM_024453099.1:c.74582C>A (TTN) XP_024308867.1:p.Ser24861Ter
XM_024453100.1:c.64436C>A (TTN) XP_024308868.1:p.Ser21479Ter