Canonical Allele Identifier: CA349422864

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535798T>G , CM000664.2:g.178535798T>G GRCh38
NC_000002.11:g.179400525T>G , CM000664.1:g.179400525T>G GRCh37
NC_000002.10:g.179108771T>G NCBI36
NG_011618.3:g.300005A>C , LRG_391:g.300005A>C
NG_051363.1:g.17972T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.93113A>C (TTN) ENSP00000343764.6:p.His31038Pro
ENST00000342175.11:c.74198A>C (TTN) ENSP00000340554.6:p.His24733Pro
ENST00000359218.10:c.73997A>C (TTN) ENSP00000352154.5:p.His24666Pro
ENST00000342175.10:c.74198A>C (TTN) ENSP00000340554.6:p.His24733Pro
ENST00000342992.10:c.93113A>C (TTN) ENSP00000343764.6:p.His31038Pro
ENST00000359218.9:c.73997A>C (TTN) ENSP00000352154.5:p.His24666Pro
ENST00000460472.6:c.73622A>C (TTN) ENSP00000434586.1:p.His24541Pro
ENST00000589042.5:c.100817A>C (TTN) MANE Select ENSP00000467141.1:p.His33606Pro
ENST00000591111.5:c.95894A>C (TTN) ENSP00000465570.1:p.His31965Pro
ENST00000615779.4:c.95894A>C (TTN) ENSP00000483597.1:p.His31965Pro
NM_001256850.1:c.95894A>C (TTN) NP_001243779.1:p.His31965Pro
NM_001267550.2:c.100817A>C (TTN) MANE Select NP_001254479.2:p.His33606Pro
NM_003319.4:c.73622A>C (TTN) NP_003310.4:p.His24541Pro
NM_133378.4:c.93113A>C (TTN) NP_596869.4:p.His31038Pro
NM_133432.3:c.73997A>C (TTN) NP_597676.3:p.His24666Pro
NM_133437.4:c.74198A>C (TTN) NP_597681.4:p.His24733Pro
NR_038271.1:n.446+12162T>G (TTN-AS1)
NR_038272.1:n.286T>G (TTN-AS1)
XM_011511729.1:c.99914A>C (TTN) XP_011510031.1:p.His33305Pro
XM_011511730.1:c.73808A>C (TTN) XP_011510032.1:p.His24603Pro
XM_011511731.1:c.73667A>C (TTN) XP_011510033.1:p.His24556Pro
XM_017004819.1:c.99710A>C (TTN) XP_016860308.1:p.His33237Pro
XM_017004820.1:c.95108A>C (TTN) XP_016860309.1:p.His31703Pro
XM_017004821.1:c.95105A>C (TTN) XP_016860310.1:p.His31702Pro
XM_017004822.1:c.92147A>C (TTN) XP_016860311.1:p.His30716Pro
XM_017004823.1:c.73763A>C (TTN) XP_016860312.1:p.His24588Pro
XM_024453094.1:c.95258A>C (TTN) XP_024308862.1:p.His31753Pro
XM_024453095.1:c.95255A>C (TTN) XP_024308863.1:p.His31752Pro
XM_024453096.1:c.94688A>C (TTN) XP_024308864.1:p.His31563Pro
XM_024453097.1:c.92030A>C (TTN) XP_024308865.1:p.His30677Pro
XM_024453098.1:c.91949A>C (TTN) XP_024308866.1:p.His30650Pro
XM_024453099.1:c.73712A>C (TTN) XP_024308867.1:p.His24571Pro
XM_024453100.1:c.63566A>C (TTN) XP_024308868.1:p.His21189Pro