Canonical Allele Identifier: CA349446200

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543321T>G , CM000664.2:g.178543321T>G GRCh38
NC_000002.11:g.179408048T>G , CM000664.1:g.179408048T>G GRCh37
NC_000002.10:g.179116294T>G NCBI36
NG_011618.3:g.292482A>C , LRG_391:g.292482A>C
NG_051363.1:g.25495T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88948A>C (TTN) ENSP00000343764.6:p.Thr29650Pro
ENST00000342175.11:c.70033A>C (TTN) ENSP00000340554.6:p.Thr23345Pro
ENST00000359218.10:c.69832A>C (TTN) ENSP00000352154.5:p.Thr23278Pro
ENST00000342175.10:c.70033A>C (TTN) ENSP00000340554.6:p.Thr23345Pro
ENST00000342992.10:c.88948A>C (TTN) ENSP00000343764.6:p.Thr29650Pro
ENST00000359218.9:c.69832A>C (TTN) ENSP00000352154.5:p.Thr23278Pro
ENST00000460472.6:c.69457A>C (TTN) ENSP00000434586.1:p.Thr23153Pro
ENST00000589042.5:c.96652A>C (TTN) MANE Select ENSP00000467141.1:p.Thr32218Pro
ENST00000591111.5:c.91729A>C (TTN) ENSP00000465570.1:p.Thr30577Pro
ENST00000615779.4:c.91729A>C (TTN) ENSP00000483597.1:p.Thr30577Pro
NM_001256850.1:c.91729A>C (TTN) NP_001243779.1:p.Thr30577Pro
NM_001267550.2:c.96652A>C (TTN) MANE Select NP_001254479.2:p.Thr32218Pro
NM_003319.4:c.69457A>C (TTN) NP_003310.4:p.Thr23153Pro
NM_133378.4:c.88948A>C (TTN) NP_596869.4:p.Thr29650Pro
NM_133432.3:c.69832A>C (TTN) NP_597676.3:p.Thr23278Pro
NM_133437.4:c.70033A>C (TTN) NP_597681.4:p.Thr23345Pro
NR_038271.1:n.446+19685T>G (TTN-AS1)
NR_038272.1:n.2043+960T>G (TTN-AS1)
XM_011511729.1:c.95749A>C (TTN) XP_011510031.1:p.Thr31917Pro
XM_011511730.1:c.69643A>C (TTN) XP_011510032.1:p.Thr23215Pro
XM_011511731.1:c.69502A>C (TTN) XP_011510033.1:p.Thr23168Pro
XM_017004819.1:c.95545A>C (TTN) XP_016860308.1:p.Thr31849Pro
XM_017004820.1:c.90943A>C (TTN) XP_016860309.1:p.Thr30315Pro
XM_017004821.1:c.90940A>C (TTN) XP_016860310.1:p.Thr30314Pro
XM_017004822.1:c.87982A>C (TTN) XP_016860311.1:p.Thr29328Pro
XM_017004823.1:c.69598A>C (TTN) XP_016860312.1:p.Thr23200Pro
XM_024453094.1:c.91093A>C (TTN) XP_024308862.1:p.Thr30365Pro
XM_024453095.1:c.91090A>C (TTN) XP_024308863.1:p.Thr30364Pro
XM_024453096.1:c.90523A>C (TTN) XP_024308864.1:p.Thr30175Pro
XM_024453097.1:c.87865A>C (TTN) XP_024308865.1:p.Thr29289Pro
XM_024453098.1:c.87784A>C (TTN) XP_024308866.1:p.Thr29262Pro
XM_024453099.1:c.69547A>C (TTN) XP_024308867.1:p.Thr23183Pro
XM_024453100.1:c.59401A>C (TTN) XP_024308868.1:p.Thr19801Pro