Canonical Allele Identifier: CA349405644

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530116C>G , CM000664.2:g.178530116C>G GRCh38
NC_000002.11:g.179394843C>G , CM000664.1:g.179394843C>G GRCh37
NC_000002.10:g.179103089C>G NCBI36
NG_011618.3:g.305687G>C , LRG_391:g.305687G>C
NG_051363.1:g.12290C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98671G>C (TTN) ENSP00000343764.6:p.Ala32891Pro
ENST00000342175.11:c.79756G>C (TTN) ENSP00000340554.6:p.Ala26586Pro
ENST00000359218.10:c.79555G>C (TTN) ENSP00000352154.5:p.Ala26519Pro
ENST00000342175.10:c.79756G>C (TTN) ENSP00000340554.6:p.Ala26586Pro
ENST00000342992.10:c.98671G>C (TTN) ENSP00000343764.6:p.Ala32891Pro
ENST00000359218.9:c.79555G>C (TTN) ENSP00000352154.5:p.Ala26519Pro
ENST00000460472.6:c.79180G>C (TTN) ENSP00000434586.1:p.Ala26394Pro
ENST00000589042.5:c.106375G>C (TTN) MANE Select ENSP00000467141.1:p.Ala35459Pro
ENST00000591111.5:c.101452G>C (TTN) ENSP00000465570.1:p.Ala33818Pro
ENST00000615779.4:c.101452G>C (TTN) ENSP00000483597.1:p.Ala33818Pro
NM_001256850.1:c.101452G>C (TTN) NP_001243779.1:p.Ala33818Pro
NM_001267550.2:c.106375G>C (TTN) MANE Select NP_001254479.2:p.Ala35459Pro
NM_003319.4:c.79180G>C (TTN) NP_003310.4:p.Ala26394Pro
NM_133378.4:c.98671G>C (TTN) NP_596869.4:p.Ala32891Pro
NM_133432.3:c.79555G>C (TTN) NP_597676.3:p.Ala26519Pro
NM_133437.4:c.79756G>C (TTN) NP_597681.4:p.Ala26586Pro
NR_038271.1:n.446+6480C>G (TTN-AS1)
NR_038272.1:n.220-5616C>G (TTN-AS1)
XM_011511729.1:c.105472G>C (TTN) XP_011510031.1:p.Ala35158Pro
XM_011511730.1:c.79366G>C (TTN) XP_011510032.1:p.Ala26456Pro
XM_011511731.1:c.79225G>C (TTN) XP_011510033.1:p.Ala26409Pro
XM_017004819.1:c.105268G>C (TTN) XP_016860308.1:p.Ala35090Pro
XM_017004820.1:c.100666G>C (TTN) XP_016860309.1:p.Ala33556Pro
XM_017004821.1:c.100663G>C (TTN) XP_016860310.1:p.Ala33555Pro
XM_017004822.1:c.97705G>C (TTN) XP_016860311.1:p.Ala32569Pro
XM_017004823.1:c.79321G>C (TTN) XP_016860312.1:p.Ala26441Pro
XM_024453094.1:c.100816G>C (TTN) XP_024308862.1:p.Ala33606Pro
XM_024453095.1:c.100813G>C (TTN) XP_024308863.1:p.Ala33605Pro
XM_024453096.1:c.100246G>C (TTN) XP_024308864.1:p.Ala33416Pro
XM_024453097.1:c.97588G>C (TTN) XP_024308865.1:p.Ala32530Pro
XM_024453098.1:c.97507G>C (TTN) XP_024308866.1:p.Ala32503Pro
XM_024453099.1:c.79270G>C (TTN) XP_024308867.1:p.Ala26424Pro
XM_024453100.1:c.69124G>C (TTN) XP_024308868.1:p.Ala23042Pro