Canonical Allele Identifier: CA349411470

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532087A>T , CM000664.2:g.178532087A>T GRCh38
NC_000002.11:g.179396814A>T , CM000664.1:g.179396814A>T GRCh37
NC_000002.10:g.179105060A>T NCBI36
NG_011618.3:g.303716T>A , LRG_391:g.303716T>A
NG_051363.1:g.14261A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96824T>A (TTN) ENSP00000343764.6:p.Leu32275Gln
ENST00000342175.11:c.77909T>A (TTN) ENSP00000340554.6:p.Leu25970Gln
ENST00000359218.10:c.77708T>A (TTN) ENSP00000352154.5:p.Leu25903Gln
ENST00000342175.10:c.77909T>A (TTN) ENSP00000340554.6:p.Leu25970Gln
ENST00000342992.10:c.96824T>A (TTN) ENSP00000343764.6:p.Leu32275Gln
ENST00000359218.9:c.77708T>A (TTN) ENSP00000352154.5:p.Leu25903Gln
ENST00000460472.6:c.77333T>A (TTN) ENSP00000434586.1:p.Leu25778Gln
ENST00000589042.5:c.104528T>A (TTN) MANE Select ENSP00000467141.1:p.Leu34843Gln
ENST00000591111.5:c.99605T>A (TTN) ENSP00000465570.1:p.Leu33202Gln
ENST00000615779.4:c.99605T>A (TTN) ENSP00000483597.1:p.Leu33202Gln
NM_001256850.1:c.99605T>A (TTN) NP_001243779.1:p.Leu33202Gln
NM_001267550.2:c.104528T>A (TTN) MANE Select NP_001254479.2:p.Leu34843Gln
NM_003319.4:c.77333T>A (TTN) NP_003310.4:p.Leu25778Gln
NM_133378.4:c.96824T>A (TTN) NP_596869.4:p.Leu32275Gln
NM_133432.3:c.77708T>A (TTN) NP_597676.3:p.Leu25903Gln
NM_133437.4:c.77909T>A (TTN) NP_597681.4:p.Leu25970Gln
NR_038271.1:n.446+8451A>T (TTN-AS1)
NR_038272.1:n.220-3645A>T (TTN-AS1)
XM_011511729.1:c.103625T>A (TTN) XP_011510031.1:p.Leu34542Gln
XM_011511730.1:c.77519T>A (TTN) XP_011510032.1:p.Leu25840Gln
XM_011511731.1:c.77378T>A (TTN) XP_011510033.1:p.Leu25793Gln
XM_017004819.1:c.103421T>A (TTN) XP_016860308.1:p.Leu34474Gln
XM_017004820.1:c.98819T>A (TTN) XP_016860309.1:p.Leu32940Gln
XM_017004821.1:c.98816T>A (TTN) XP_016860310.1:p.Leu32939Gln
XM_017004822.1:c.95858T>A (TTN) XP_016860311.1:p.Leu31953Gln
XM_017004823.1:c.77474T>A (TTN) XP_016860312.1:p.Leu25825Gln
XM_024453094.1:c.98969T>A (TTN) XP_024308862.1:p.Leu32990Gln
XM_024453095.1:c.98966T>A (TTN) XP_024308863.1:p.Leu32989Gln
XM_024453096.1:c.98399T>A (TTN) XP_024308864.1:p.Leu32800Gln
XM_024453097.1:c.95741T>A (TTN) XP_024308865.1:p.Leu31914Gln
XM_024453098.1:c.95660T>A (TTN) XP_024308866.1:p.Leu31887Gln
XM_024453099.1:c.77423T>A (TTN) XP_024308867.1:p.Leu25808Gln
XM_024453100.1:c.67277T>A (TTN) XP_024308868.1:p.Leu22426Gln