Canonical Allele Identifier: CA349535023

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557705G>C , CM000664.2:g.178557705G>C GRCh38
NC_000002.11:g.179422432G>C , CM000664.1:g.179422432G>C GRCh37
NC_000002.10:g.179130678G>C NCBI36
NG_011618.3:g.278098C>G , LRG_391:g.278098C>G
NG_051363.1:g.39879G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79945C>G (TTN) ENSP00000343764.6:p.Arg26649Gly
ENST00000342175.11:c.61030C>G (TTN) ENSP00000340554.6:p.Arg20344Gly
ENST00000359218.10:c.60829C>G (TTN) ENSP00000352154.5:p.Arg20277Gly
ENST00000342175.10:c.61030C>G (TTN) ENSP00000340554.6:p.Arg20344Gly
ENST00000342992.10:c.79945C>G (TTN) ENSP00000343764.6:p.Arg26649Gly
ENST00000359218.9:c.60829C>G (TTN) ENSP00000352154.5:p.Arg20277Gly
ENST00000460472.6:c.60454C>G (TTN) ENSP00000434586.1:p.Arg20152Gly
ENST00000589042.5:c.87649C>G (TTN) MANE Select ENSP00000467141.1:p.Arg29217Gly
ENST00000591111.5:c.82726C>G (TTN) ENSP00000465570.1:p.Arg27576Gly
ENST00000615779.4:c.82726C>G (TTN) ENSP00000483597.1:p.Arg27576Gly
NM_001256850.1:c.82726C>G (TTN) NP_001243779.1:p.Arg27576Gly
NM_001267550.2:c.87649C>G (TTN) MANE Select NP_001254479.2:p.Arg29217Gly
NM_003319.4:c.60454C>G (TTN) NP_003310.4:p.Arg20152Gly
NM_133378.4:c.79945C>G (TTN) NP_596869.4:p.Arg26649Gly
NM_133432.3:c.60829C>G (TTN) NP_597676.3:p.Arg20277Gly
NM_133437.4:c.61030C>G (TTN) NP_597681.4:p.Arg20344Gly
NR_038271.1:n.447-13595G>C (TTN-AS1)
NR_038272.1:n.2043+15344G>C (TTN-AS1)
XM_011511729.1:c.86746C>G (TTN) XP_011510031.1:p.Arg28916Gly
XM_011511730.1:c.60640C>G (TTN) XP_011510032.1:p.Arg20214Gly
XM_011511731.1:c.60499C>G (TTN) XP_011510033.1:p.Arg20167Gly
XM_017004819.1:c.86542C>G (TTN) XP_016860308.1:p.Arg28848Gly
XM_017004820.1:c.81940C>G (TTN) XP_016860309.1:p.Arg27314Gly
XM_017004821.1:c.81937C>G (TTN) XP_016860310.1:p.Arg27313Gly
XM_017004822.1:c.78979C>G (TTN) XP_016860311.1:p.Arg26327Gly
XM_017004823.1:c.60595C>G (TTN) XP_016860312.1:p.Arg20199Gly
XM_024453094.1:c.82090C>G (TTN) XP_024308862.1:p.Arg27364Gly
XM_024453095.1:c.82087C>G (TTN) XP_024308863.1:p.Arg27363Gly
XM_024453096.1:c.81520C>G (TTN) XP_024308864.1:p.Arg27174Gly
XM_024453097.1:c.78862C>G (TTN) XP_024308865.1:p.Arg26288Gly
XM_024453098.1:c.78781C>G (TTN) XP_024308866.1:p.Arg26261Gly
XM_024453099.1:c.60544C>G (TTN) XP_024308867.1:p.Arg20182Gly
XM_024453100.1:c.50398C>G (TTN) XP_024308868.1:p.Arg16800Gly