Canonical Allele Identifier: CA349407143

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530566G>C , CM000664.2:g.178530566G>C GRCh38
NC_000002.11:g.179395293G>C , CM000664.1:g.179395293G>C GRCh37
NC_000002.10:g.179103539G>C NCBI36
NG_011618.3:g.305237C>G , LRG_391:g.305237C>G
NG_051363.1:g.12740G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98345C>G (TTN) ENSP00000343764.6:p.Thr32782Ser
ENST00000342175.11:c.79430C>G (TTN) ENSP00000340554.6:p.Thr26477Ser
ENST00000359218.10:c.79229C>G (TTN) ENSP00000352154.5:p.Thr26410Ser
ENST00000342175.10:c.79430C>G (TTN) ENSP00000340554.6:p.Thr26477Ser
ENST00000342992.10:c.98345C>G (TTN) ENSP00000343764.6:p.Thr32782Ser
ENST00000359218.9:c.79229C>G (TTN) ENSP00000352154.5:p.Thr26410Ser
ENST00000460472.6:c.78854C>G (TTN) ENSP00000434586.1:p.Thr26285Ser
ENST00000589042.5:c.106049C>G (TTN) MANE Select ENSP00000467141.1:p.Thr35350Ser
ENST00000591111.5:c.101126C>G (TTN) ENSP00000465570.1:p.Thr33709Ser
ENST00000615779.4:c.101126C>G (TTN) ENSP00000483597.1:p.Thr33709Ser
NM_001256850.1:c.101126C>G (TTN) NP_001243779.1:p.Thr33709Ser
NM_001267550.2:c.106049C>G (TTN) MANE Select NP_001254479.2:p.Thr35350Ser
NM_003319.4:c.78854C>G (TTN) NP_003310.4:p.Thr26285Ser
NM_133378.4:c.98345C>G (TTN) NP_596869.4:p.Thr32782Ser
NM_133432.3:c.79229C>G (TTN) NP_597676.3:p.Thr26410Ser
NM_133437.4:c.79430C>G (TTN) NP_597681.4:p.Thr26477Ser
NR_038271.1:n.446+6930G>C (TTN-AS1)
NR_038272.1:n.220-5166G>C (TTN-AS1)
XM_011511729.1:c.105146C>G (TTN) XP_011510031.1:p.Thr35049Ser
XM_011511730.1:c.79040C>G (TTN) XP_011510032.1:p.Thr26347Ser
XM_011511731.1:c.78899C>G (TTN) XP_011510033.1:p.Thr26300Ser
XM_017004819.1:c.104942C>G (TTN) XP_016860308.1:p.Thr34981Ser
XM_017004820.1:c.100340C>G (TTN) XP_016860309.1:p.Thr33447Ser
XM_017004821.1:c.100337C>G (TTN) XP_016860310.1:p.Thr33446Ser
XM_017004822.1:c.97379C>G (TTN) XP_016860311.1:p.Thr32460Ser
XM_017004823.1:c.78995C>G (TTN) XP_016860312.1:p.Thr26332Ser
XM_024453094.1:c.100490C>G (TTN) XP_024308862.1:p.Thr33497Ser
XM_024453095.1:c.100487C>G (TTN) XP_024308863.1:p.Thr33496Ser
XM_024453096.1:c.99920C>G (TTN) XP_024308864.1:p.Thr33307Ser
XM_024453097.1:c.97262C>G (TTN) XP_024308865.1:p.Thr32421Ser
XM_024453098.1:c.97181C>G (TTN) XP_024308866.1:p.Thr32394Ser
XM_024453099.1:c.78944C>G (TTN) XP_024308867.1:p.Thr26315Ser
XM_024453100.1:c.68798C>G (TTN) XP_024308868.1:p.Thr22933Ser