Canonical Allele Identifier: CA349458009

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544467G>C , CM000664.2:g.178544467G>C GRCh38
NC_000002.11:g.179409194G>C , CM000664.1:g.179409194G>C GRCh37
NC_000002.10:g.179117440G>C NCBI36
NG_011618.3:g.291336C>G , LRG_391:g.291336C>G
NG_051363.1:g.26641G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88058C>G (TTN) ENSP00000343764.6:p.Thr29353Ser
ENST00000342175.11:c.69143C>G (TTN) ENSP00000340554.6:p.Thr23048Ser
ENST00000359218.10:c.68942C>G (TTN) ENSP00000352154.5:p.Thr22981Ser
ENST00000342175.10:c.69143C>G (TTN) ENSP00000340554.6:p.Thr23048Ser
ENST00000342992.10:c.88058C>G (TTN) ENSP00000343764.6:p.Thr29353Ser
ENST00000359218.9:c.68942C>G (TTN) ENSP00000352154.5:p.Thr22981Ser
ENST00000460472.6:c.68567C>G (TTN) ENSP00000434586.1:p.Thr22856Ser
ENST00000589042.5:c.95762C>G (TTN) MANE Select ENSP00000467141.1:p.Thr31921Ser
ENST00000591111.5:c.90839C>G (TTN) ENSP00000465570.1:p.Thr30280Ser
ENST00000615779.4:c.90839C>G (TTN) ENSP00000483597.1:p.Thr30280Ser
NM_001256850.1:c.90839C>G (TTN) NP_001243779.1:p.Thr30280Ser
NM_001267550.2:c.95762C>G (TTN) MANE Select NP_001254479.2:p.Thr31921Ser
NM_003319.4:c.68567C>G (TTN) NP_003310.4:p.Thr22856Ser
NM_133378.4:c.88058C>G (TTN) NP_596869.4:p.Thr29353Ser
NM_133432.3:c.68942C>G (TTN) NP_597676.3:p.Thr22981Ser
NM_133437.4:c.69143C>G (TTN) NP_597681.4:p.Thr23048Ser
NR_038271.1:n.446+20831G>C (TTN-AS1)
NR_038272.1:n.2043+2106G>C (TTN-AS1)
XM_011511729.1:c.94859C>G (TTN) XP_011510031.1:p.Thr31620Ser
XM_011511730.1:c.68753C>G (TTN) XP_011510032.1:p.Thr22918Ser
XM_011511731.1:c.68612C>G (TTN) XP_011510033.1:p.Thr22871Ser
XM_017004819.1:c.94655C>G (TTN) XP_016860308.1:p.Thr31552Ser
XM_017004820.1:c.90053C>G (TTN) XP_016860309.1:p.Thr30018Ser
XM_017004821.1:c.90050C>G (TTN) XP_016860310.1:p.Thr30017Ser
XM_017004822.1:c.87092C>G (TTN) XP_016860311.1:p.Thr29031Ser
XM_017004823.1:c.68708C>G (TTN) XP_016860312.1:p.Thr22903Ser
XM_024453094.1:c.90203C>G (TTN) XP_024308862.1:p.Thr30068Ser
XM_024453095.1:c.90200C>G (TTN) XP_024308863.1:p.Thr30067Ser
XM_024453096.1:c.89633C>G (TTN) XP_024308864.1:p.Thr29878Ser
XM_024453097.1:c.86975C>G (TTN) XP_024308865.1:p.Thr28992Ser
XM_024453098.1:c.86894C>G (TTN) XP_024308866.1:p.Thr28965Ser
XM_024453099.1:c.68657C>G (TTN) XP_024308867.1:p.Thr22886Ser
XM_024453100.1:c.58511C>G (TTN) XP_024308868.1:p.Thr19504Ser