Canonical Allele Identifier: CA1310537563

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586618A= , CM000664.2:g.178586618A= GRCh38
NC_000002.11:g.179451345A= , CM000664.1:g.179451345A= GRCh37
NC_000002.10:g.179159591A= NCBI36
NG_011618.3:g.249185T= , LRG_391:g.249185T=
NG_051363.1:g.68792A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.56579T= (TTN) ENSP00000343764.6:p.Val18860=
ENST00000342175.11:c.37664T= (TTN) ENSP00000340554.6:p.Val12555=
ENST00000359218.10:c.37463T= (TTN) ENSP00000352154.5:p.Val12488=
ENST00000342175.10:c.37664T= (TTN) ENSP00000340554.6:p.Val12555=
ENST00000342992.10:c.56579T= (TTN) ENSP00000343764.6:p.Val18860=
ENST00000359218.9:c.37463T= (TTN) ENSP00000352154.5:p.Val12488=
ENST00000460472.6:c.37088T= (TTN) ENSP00000434586.1:p.Val12363=
ENST00000589042.5:c.64283T= (TTN) MANE Select ENSP00000467141.1:p.Val21428=
ENST00000591111.5:c.59360T= (TTN) ENSP00000465570.1:p.Val19787=
ENST00000615779.4:c.59360T= (TTN) ENSP00000483597.1:p.Val19787=
NM_001256850.1:c.59360T= (TTN) NP_001243779.1:p.Val19787=
NM_001267550.2:c.64283T= (TTN) MANE Select NP_001254479.2:p.Val21428=
NM_003319.4:c.37088T= (TTN) NP_003310.4:p.Val12363=
NM_133378.4:c.56579T= (TTN) NP_596869.4:p.Val18860=
NM_133432.3:c.37463T= (TTN) NP_597676.3:p.Val12488=
NM_133437.4:c.37664T= (TTN) NP_597681.4:p.Val12555=
NR_038271.1:n.597-10978A= (TTN-AS1)
NR_038272.1:n.3188+1625A= (TTN-AS1)
XM_011511729.1:c.63380T= (TTN) XP_011510031.1:p.Val21127=
XM_011511730.1:c.37274T= (TTN) XP_011510032.1:p.Val12425=
XM_011511731.1:c.37133T= (TTN) XP_011510033.1:p.Val12378=
XM_017004819.1:c.63176T= (TTN) XP_016860308.1:p.Val21059=
XM_017004820.1:c.58574T= (TTN) XP_016860309.1:p.Val19525=
XM_017004821.1:c.58571T= (TTN) XP_016860310.1:p.Val19524=
XM_017004822.1:c.55613T= (TTN) XP_016860311.1:p.Val18538=
XM_017004823.1:c.37229T= (TTN) XP_016860312.1:p.Val12410=
XM_024453094.1:c.58724T= (TTN) XP_024308862.1:p.Val19575=
XM_024453095.1:c.58721T= (TTN) XP_024308863.1:p.Val19574=
XM_024453096.1:c.58154T= (TTN) XP_024308864.1:p.Val19385=
XM_024453097.1:c.55496T= (TTN) XP_024308865.1:p.Val18499=
XM_024453098.1:c.55415T= (TTN) XP_024308866.1:p.Val18472=
XM_024453099.1:c.37178T= (TTN) XP_024308867.1:p.Val12393=
XM_024453100.1:c.27032T= (TTN) XP_024308868.1:p.Val9011=