Canonical Allele Identifier: CA349456421

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544347G>C , CM000664.2:g.178544347G>C GRCh38
NC_000002.11:g.179409074G>C , CM000664.1:g.179409074G>C GRCh37
NC_000002.10:g.179117320G>C NCBI36
NG_011618.3:g.291456C>G , LRG_391:g.291456C>G
NG_051363.1:g.26521G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88178C>G (TTN) ENSP00000343764.6:p.Thr29393Ser
ENST00000342175.11:c.69263C>G (TTN) ENSP00000340554.6:p.Thr23088Ser
ENST00000359218.10:c.69062C>G (TTN) ENSP00000352154.5:p.Thr23021Ser
ENST00000342175.10:c.69263C>G (TTN) ENSP00000340554.6:p.Thr23088Ser
ENST00000342992.10:c.88178C>G (TTN) ENSP00000343764.6:p.Thr29393Ser
ENST00000359218.9:c.69062C>G (TTN) ENSP00000352154.5:p.Thr23021Ser
ENST00000460472.6:c.68687C>G (TTN) ENSP00000434586.1:p.Thr22896Ser
ENST00000589042.5:c.95882C>G (TTN) MANE Select ENSP00000467141.1:p.Thr31961Ser
ENST00000591111.5:c.90959C>G (TTN) ENSP00000465570.1:p.Thr30320Ser
ENST00000615779.4:c.90959C>G (TTN) ENSP00000483597.1:p.Thr30320Ser
NM_001256850.1:c.90959C>G (TTN) NP_001243779.1:p.Thr30320Ser
NM_001267550.2:c.95882C>G (TTN) MANE Select NP_001254479.2:p.Thr31961Ser
NM_003319.4:c.68687C>G (TTN) NP_003310.4:p.Thr22896Ser
NM_133378.4:c.88178C>G (TTN) NP_596869.4:p.Thr29393Ser
NM_133432.3:c.69062C>G (TTN) NP_597676.3:p.Thr23021Ser
NM_133437.4:c.69263C>G (TTN) NP_597681.4:p.Thr23088Ser
NR_038271.1:n.446+20711G>C (TTN-AS1)
NR_038272.1:n.2043+1986G>C (TTN-AS1)
XM_011511729.1:c.94979C>G (TTN) XP_011510031.1:p.Thr31660Ser
XM_011511730.1:c.68873C>G (TTN) XP_011510032.1:p.Thr22958Ser
XM_011511731.1:c.68732C>G (TTN) XP_011510033.1:p.Thr22911Ser
XM_017004819.1:c.94775C>G (TTN) XP_016860308.1:p.Thr31592Ser
XM_017004820.1:c.90173C>G (TTN) XP_016860309.1:p.Thr30058Ser
XM_017004821.1:c.90170C>G (TTN) XP_016860310.1:p.Thr30057Ser
XM_017004822.1:c.87212C>G (TTN) XP_016860311.1:p.Thr29071Ser
XM_017004823.1:c.68828C>G (TTN) XP_016860312.1:p.Thr22943Ser
XM_024453094.1:c.90323C>G (TTN) XP_024308862.1:p.Thr30108Ser
XM_024453095.1:c.90320C>G (TTN) XP_024308863.1:p.Thr30107Ser
XM_024453096.1:c.89753C>G (TTN) XP_024308864.1:p.Thr29918Ser
XM_024453097.1:c.87095C>G (TTN) XP_024308865.1:p.Thr29032Ser
XM_024453098.1:c.87014C>G (TTN) XP_024308866.1:p.Thr29005Ser
XM_024453099.1:c.68777C>G (TTN) XP_024308867.1:p.Thr22926Ser
XM_024453100.1:c.58631C>G (TTN) XP_024308868.1:p.Thr19544Ser