Canonical Allele Identifier: CA349427709

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537531G>T , CM000664.2:g.178537531G>T GRCh38
NC_000002.11:g.179402258G>T , CM000664.1:g.179402258G>T GRCh37
NC_000002.10:g.179110504G>T NCBI36
NG_011618.3:g.298272C>A , LRG_391:g.298272C>A
NG_051363.1:g.19705G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91972C>A (TTN) ENSP00000343764.6:p.Pro30658Thr
ENST00000342175.11:c.73057C>A (TTN) ENSP00000340554.6:p.Pro24353Thr
ENST00000359218.10:c.72856C>A (TTN) ENSP00000352154.5:p.Pro24286Thr
ENST00000342175.10:c.73057C>A (TTN) ENSP00000340554.6:p.Pro24353Thr
ENST00000342992.10:c.91972C>A (TTN) ENSP00000343764.6:p.Pro30658Thr
ENST00000359218.9:c.72856C>A (TTN) ENSP00000352154.5:p.Pro24286Thr
ENST00000460472.6:c.72481C>A (TTN) ENSP00000434586.1:p.Pro24161Thr
ENST00000589042.5:c.99676C>A (TTN) MANE Select ENSP00000467141.1:p.Pro33226Thr
ENST00000591111.5:c.94753C>A (TTN) ENSP00000465570.1:p.Pro31585Thr
ENST00000615779.4:c.94753C>A (TTN) ENSP00000483597.1:p.Pro31585Thr
NM_001256850.1:c.94753C>A (TTN) NP_001243779.1:p.Pro31585Thr
NM_001267550.2:c.99676C>A (TTN) MANE Select NP_001254479.2:p.Pro33226Thr
NM_003319.4:c.72481C>A (TTN) NP_003310.4:p.Pro24161Thr
NM_133378.4:c.91972C>A (TTN) NP_596869.4:p.Pro30658Thr
NM_133432.3:c.72856C>A (TTN) NP_597676.3:p.Pro24286Thr
NM_133437.4:c.73057C>A (TTN) NP_597681.4:p.Pro24353Thr
NR_038271.1:n.446+13895G>T (TTN-AS1)
NR_038272.1:n.487G>T (TTN-AS1)
XM_011511729.1:c.98773C>A (TTN) XP_011510031.1:p.Pro32925Thr
XM_011511730.1:c.72667C>A (TTN) XP_011510032.1:p.Pro24223Thr
XM_011511731.1:c.72526C>A (TTN) XP_011510033.1:p.Pro24176Thr
XM_017004819.1:c.98569C>A (TTN) XP_016860308.1:p.Pro32857Thr
XM_017004820.1:c.93967C>A (TTN) XP_016860309.1:p.Pro31323Thr
XM_017004821.1:c.93964C>A (TTN) XP_016860310.1:p.Pro31322Thr
XM_017004822.1:c.91006C>A (TTN) XP_016860311.1:p.Pro30336Thr
XM_017004823.1:c.72622C>A (TTN) XP_016860312.1:p.Pro24208Thr
XM_024453094.1:c.94117C>A (TTN) XP_024308862.1:p.Pro31373Thr
XM_024453095.1:c.94114C>A (TTN) XP_024308863.1:p.Pro31372Thr
XM_024453096.1:c.93547C>A (TTN) XP_024308864.1:p.Pro31183Thr
XM_024453097.1:c.90889C>A (TTN) XP_024308865.1:p.Pro30297Thr
XM_024453098.1:c.90808C>A (TTN) XP_024308866.1:p.Pro30270Thr
XM_024453099.1:c.72571C>A (TTN) XP_024308867.1:p.Pro24191Thr
XM_024453100.1:c.62425C>A (TTN) XP_024308868.1:p.Pro20809Thr