Canonical Allele Identifier: CA349407076

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530535C>A , CM000664.2:g.178530535C>A GRCh38
NC_000002.11:g.179395262C>A , CM000664.1:g.179395262C>A GRCh37
NC_000002.10:g.179103508C>A NCBI36
NG_011618.3:g.305268G>T , LRG_391:g.305268G>T
NG_051363.1:g.12709C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98376G>T (TTN) ENSP00000343764.6:p.Glu32792Asp
ENST00000342175.11:c.79461G>T (TTN) ENSP00000340554.6:p.Glu26487Asp
ENST00000359218.10:c.79260G>T (TTN) ENSP00000352154.5:p.Glu26420Asp
ENST00000342175.10:c.79461G>T (TTN) ENSP00000340554.6:p.Glu26487Asp
ENST00000342992.10:c.98376G>T (TTN) ENSP00000343764.6:p.Glu32792Asp
ENST00000359218.9:c.79260G>T (TTN) ENSP00000352154.5:p.Glu26420Asp
ENST00000460472.6:c.78885G>T (TTN) ENSP00000434586.1:p.Glu26295Asp
ENST00000589042.5:c.106080G>T (TTN) MANE Select ENSP00000467141.1:p.Glu35360Asp
ENST00000591111.5:c.101157G>T (TTN) ENSP00000465570.1:p.Glu33719Asp
ENST00000615779.4:c.101157G>T (TTN) ENSP00000483597.1:p.Glu33719Asp
NM_001256850.1:c.101157G>T (TTN) NP_001243779.1:p.Glu33719Asp
NM_001267550.2:c.106080G>T (TTN) MANE Select NP_001254479.2:p.Glu35360Asp
NM_003319.4:c.78885G>T (TTN) NP_003310.4:p.Glu26295Asp
NM_133378.4:c.98376G>T (TTN) NP_596869.4:p.Glu32792Asp
NM_133432.3:c.79260G>T (TTN) NP_597676.3:p.Glu26420Asp
NM_133437.4:c.79461G>T (TTN) NP_597681.4:p.Glu26487Asp
NR_038271.1:n.446+6899C>A (TTN-AS1)
NR_038272.1:n.220-5197C>A (TTN-AS1)
XM_011511729.1:c.105177G>T (TTN) XP_011510031.1:p.Glu35059Asp
XM_011511730.1:c.79071G>T (TTN) XP_011510032.1:p.Glu26357Asp
XM_011511731.1:c.78930G>T (TTN) XP_011510033.1:p.Glu26310Asp
XM_017004819.1:c.104973G>T (TTN) XP_016860308.1:p.Glu34991Asp
XM_017004820.1:c.100371G>T (TTN) XP_016860309.1:p.Glu33457Asp
XM_017004821.1:c.100368G>T (TTN) XP_016860310.1:p.Glu33456Asp
XM_017004822.1:c.97410G>T (TTN) XP_016860311.1:p.Glu32470Asp
XM_017004823.1:c.79026G>T (TTN) XP_016860312.1:p.Glu26342Asp
XM_024453094.1:c.100521G>T (TTN) XP_024308862.1:p.Glu33507Asp
XM_024453095.1:c.100518G>T (TTN) XP_024308863.1:p.Glu33506Asp
XM_024453096.1:c.99951G>T (TTN) XP_024308864.1:p.Glu33317Asp
XM_024453097.1:c.97293G>T (TTN) XP_024308865.1:p.Glu32431Asp
XM_024453098.1:c.97212G>T (TTN) XP_024308866.1:p.Glu32404Asp
XM_024453099.1:c.78975G>T (TTN) XP_024308867.1:p.Glu26325Asp
XM_024453100.1:c.68829G>T (TTN) XP_024308868.1:p.Glu22943Asp