Canonical Allele Identifier: CA349417041

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533956G>C , CM000664.2:g.178533956G>C GRCh38
NC_000002.11:g.179398683G>C , CM000664.1:g.179398683G>C GRCh37
NC_000002.10:g.179106929G>C NCBI36
NG_011618.3:g.301847C>G , LRG_391:g.301847C>G
NG_051363.1:g.16130G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94955C>G (TTN) ENSP00000343764.6:p.Ser31652Cys
ENST00000342175.11:c.76040C>G (TTN) ENSP00000340554.6:p.Ser25347Cys
ENST00000359218.10:c.75839C>G (TTN) ENSP00000352154.5:p.Ser25280Cys
ENST00000342175.10:c.76040C>G (TTN) ENSP00000340554.6:p.Ser25347Cys
ENST00000342992.10:c.94955C>G (TTN) ENSP00000343764.6:p.Ser31652Cys
ENST00000359218.9:c.75839C>G (TTN) ENSP00000352154.5:p.Ser25280Cys
ENST00000460472.6:c.75464C>G (TTN) ENSP00000434586.1:p.Ser25155Cys
ENST00000589042.5:c.102659C>G (TTN) MANE Select ENSP00000467141.1:p.Ser34220Cys
ENST00000591111.5:c.97736C>G (TTN) ENSP00000465570.1:p.Ser32579Cys
ENST00000615779.4:c.97736C>G (TTN) ENSP00000483597.1:p.Ser32579Cys
NM_001256850.1:c.97736C>G (TTN) NP_001243779.1:p.Ser32579Cys
NM_001267550.2:c.102659C>G (TTN) MANE Select NP_001254479.2:p.Ser34220Cys
NM_003319.4:c.75464C>G (TTN) NP_003310.4:p.Ser25155Cys
NM_133378.4:c.94955C>G (TTN) NP_596869.4:p.Ser31652Cys
NM_133432.3:c.75839C>G (TTN) NP_597676.3:p.Ser25280Cys
NM_133437.4:c.76040C>G (TTN) NP_597681.4:p.Ser25347Cys
NR_038271.1:n.446+10320G>C (TTN-AS1)
NR_038272.1:n.220-1776G>C (TTN-AS1)
XM_011511729.1:c.101756C>G (TTN) XP_011510031.1:p.Ser33919Cys
XM_011511730.1:c.75650C>G (TTN) XP_011510032.1:p.Ser25217Cys
XM_011511731.1:c.75509C>G (TTN) XP_011510033.1:p.Ser25170Cys
XM_017004819.1:c.101552C>G (TTN) XP_016860308.1:p.Ser33851Cys
XM_017004820.1:c.96950C>G (TTN) XP_016860309.1:p.Ser32317Cys
XM_017004821.1:c.96947C>G (TTN) XP_016860310.1:p.Ser32316Cys
XM_017004822.1:c.93989C>G (TTN) XP_016860311.1:p.Ser31330Cys
XM_017004823.1:c.75605C>G (TTN) XP_016860312.1:p.Ser25202Cys
XM_024453094.1:c.97100C>G (TTN) XP_024308862.1:p.Ser32367Cys
XM_024453095.1:c.97097C>G (TTN) XP_024308863.1:p.Ser32366Cys
XM_024453096.1:c.96530C>G (TTN) XP_024308864.1:p.Ser32177Cys
XM_024453097.1:c.93872C>G (TTN) XP_024308865.1:p.Ser31291Cys
XM_024453098.1:c.93791C>G (TTN) XP_024308866.1:p.Ser31264Cys
XM_024453099.1:c.75554C>G (TTN) XP_024308867.1:p.Ser25185Cys
XM_024453100.1:c.65408C>G (TTN) XP_024308868.1:p.Ser21803Cys