Canonical Allele Identifier: CA349456723

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544371G>A , CM000664.2:g.178544371G>A GRCh38
NC_000002.11:g.179409098G>A , CM000664.1:g.179409098G>A GRCh37
NC_000002.10:g.179117344G>A NCBI36
NG_011618.3:g.291432C>T , LRG_391:g.291432C>T
NG_051363.1:g.26545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88154C>T (TTN) ENSP00000343764.6:p.Thr29385Ile
ENST00000342175.11:c.69239C>T (TTN) ENSP00000340554.6:p.Thr23080Ile
ENST00000359218.10:c.69038C>T (TTN) ENSP00000352154.5:p.Thr23013Ile
ENST00000342175.10:c.69239C>T (TTN) ENSP00000340554.6:p.Thr23080Ile
ENST00000342992.10:c.88154C>T (TTN) ENSP00000343764.6:p.Thr29385Ile
ENST00000359218.9:c.69038C>T (TTN) ENSP00000352154.5:p.Thr23013Ile
ENST00000460472.6:c.68663C>T (TTN) ENSP00000434586.1:p.Thr22888Ile
ENST00000589042.5:c.95858C>T (TTN) MANE Select ENSP00000467141.1:p.Thr31953Ile
ENST00000591111.5:c.90935C>T (TTN) ENSP00000465570.1:p.Thr30312Ile
ENST00000615779.4:c.90935C>T (TTN) ENSP00000483597.1:p.Thr30312Ile
NM_001256850.1:c.90935C>T (TTN) NP_001243779.1:p.Thr30312Ile
NM_001267550.2:c.95858C>T (TTN) MANE Select NP_001254479.2:p.Thr31953Ile
NM_003319.4:c.68663C>T (TTN) NP_003310.4:p.Thr22888Ile
NM_133378.4:c.88154C>T (TTN) NP_596869.4:p.Thr29385Ile
NM_133432.3:c.69038C>T (TTN) NP_597676.3:p.Thr23013Ile
NM_133437.4:c.69239C>T (TTN) NP_597681.4:p.Thr23080Ile
NR_038271.1:n.446+20735G>A (TTN-AS1)
NR_038272.1:n.2043+2010G>A (TTN-AS1)
XM_011511729.1:c.94955C>T (TTN) XP_011510031.1:p.Thr31652Ile
XM_011511730.1:c.68849C>T (TTN) XP_011510032.1:p.Thr22950Ile
XM_011511731.1:c.68708C>T (TTN) XP_011510033.1:p.Thr22903Ile
XM_017004819.1:c.94751C>T (TTN) XP_016860308.1:p.Thr31584Ile
XM_017004820.1:c.90149C>T (TTN) XP_016860309.1:p.Thr30050Ile
XM_017004821.1:c.90146C>T (TTN) XP_016860310.1:p.Thr30049Ile
XM_017004822.1:c.87188C>T (TTN) XP_016860311.1:p.Thr29063Ile
XM_017004823.1:c.68804C>T (TTN) XP_016860312.1:p.Thr22935Ile
XM_024453094.1:c.90299C>T (TTN) XP_024308862.1:p.Thr30100Ile
XM_024453095.1:c.90296C>T (TTN) XP_024308863.1:p.Thr30099Ile
XM_024453096.1:c.89729C>T (TTN) XP_024308864.1:p.Thr29910Ile
XM_024453097.1:c.87071C>T (TTN) XP_024308865.1:p.Thr29024Ile
XM_024453098.1:c.86990C>T (TTN) XP_024308866.1:p.Thr28997Ile
XM_024453099.1:c.68753C>T (TTN) XP_024308867.1:p.Thr22918Ile
XM_024453100.1:c.58607C>T (TTN) XP_024308868.1:p.Thr19536Ile