Canonical Allele Identifier: CA349543322

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559638T>A , CM000664.2:g.178559638T>A GRCh38
NC_000002.11:g.179424365T>A , CM000664.1:g.179424365T>A GRCh37
NC_000002.10:g.179132611T>A NCBI36
NG_011618.3:g.276165A>T , LRG_391:g.276165A>T
NG_051363.1:g.41812T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.78790A>T (TTN) ENSP00000343764.6:p.Ser26264Cys
ENST00000342175.11:c.59875A>T (TTN) ENSP00000340554.6:p.Ser19959Cys
ENST00000359218.10:c.59674A>T (TTN) ENSP00000352154.5:p.Ser19892Cys
ENST00000342175.10:c.59875A>T (TTN) ENSP00000340554.6:p.Ser19959Cys
ENST00000342992.10:c.78790A>T (TTN) ENSP00000343764.6:p.Ser26264Cys
ENST00000359218.9:c.59674A>T (TTN) ENSP00000352154.5:p.Ser19892Cys
ENST00000460472.6:c.59299A>T (TTN) ENSP00000434586.1:p.Ser19767Cys
ENST00000589042.5:c.86494A>T (TTN) MANE Select ENSP00000467141.1:p.Ser28832Cys
ENST00000591111.5:c.81571A>T (TTN) ENSP00000465570.1:p.Ser27191Cys
ENST00000615779.4:c.81571A>T (TTN) ENSP00000483597.1:p.Ser27191Cys
NM_001256850.1:c.81571A>T (TTN) NP_001243779.1:p.Ser27191Cys
NM_001267550.2:c.86494A>T (TTN) MANE Select NP_001254479.2:p.Ser28832Cys
NM_003319.4:c.59299A>T (TTN) NP_003310.4:p.Ser19767Cys
NM_133378.4:c.78790A>T (TTN) NP_596869.4:p.Ser26264Cys
NM_133432.3:c.59674A>T (TTN) NP_597676.3:p.Ser19892Cys
NM_133437.4:c.59875A>T (TTN) NP_597681.4:p.Ser19959Cys
NR_038271.1:n.447-11662T>A (TTN-AS1)
NR_038272.1:n.2043+17277T>A (TTN-AS1)
XM_011511729.1:c.85591A>T (TTN) XP_011510031.1:p.Ser28531Cys
XM_011511730.1:c.59485A>T (TTN) XP_011510032.1:p.Ser19829Cys
XM_011511731.1:c.59344A>T (TTN) XP_011510033.1:p.Ser19782Cys
XM_017004819.1:c.85387A>T (TTN) XP_016860308.1:p.Ser28463Cys
XM_017004820.1:c.80785A>T (TTN) XP_016860309.1:p.Ser26929Cys
XM_017004821.1:c.80782A>T (TTN) XP_016860310.1:p.Ser26928Cys
XM_017004822.1:c.77824A>T (TTN) XP_016860311.1:p.Ser25942Cys
XM_017004823.1:c.59440A>T (TTN) XP_016860312.1:p.Ser19814Cys
XM_024453094.1:c.80935A>T (TTN) XP_024308862.1:p.Ser26979Cys
XM_024453095.1:c.80932A>T (TTN) XP_024308863.1:p.Ser26978Cys
XM_024453096.1:c.80365A>T (TTN) XP_024308864.1:p.Ser26789Cys
XM_024453097.1:c.77707A>T (TTN) XP_024308865.1:p.Ser25903Cys
XM_024453098.1:c.77626A>T (TTN) XP_024308866.1:p.Ser25876Cys
XM_024453099.1:c.59389A>T (TTN) XP_024308867.1:p.Ser19797Cys
XM_024453100.1:c.49243A>T (TTN) XP_024308868.1:p.Ser16415Cys