Canonical Allele Identifier: CA349427104

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537166G>A , CM000664.2:g.178537166G>A GRCh38
NC_000002.11:g.179401893G>A , CM000664.1:g.179401893G>A GRCh37
NC_000002.10:g.179110139G>A NCBI36
NG_011618.3:g.298637C>T , LRG_391:g.298637C>T
NG_051363.1:g.19340G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92239C>T (TTN) ENSP00000343764.6:p.Pro30747Ser
ENST00000342175.11:c.73324C>T (TTN) ENSP00000340554.6:p.Pro24442Ser
ENST00000359218.10:c.73123C>T (TTN) ENSP00000352154.5:p.Pro24375Ser
ENST00000342175.10:c.73324C>T (TTN) ENSP00000340554.6:p.Pro24442Ser
ENST00000342992.10:c.92239C>T (TTN) ENSP00000343764.6:p.Pro30747Ser
ENST00000359218.9:c.73123C>T (TTN) ENSP00000352154.5:p.Pro24375Ser
ENST00000460472.6:c.72748C>T (TTN) ENSP00000434586.1:p.Pro24250Ser
ENST00000589042.5:c.99943C>T (TTN) MANE Select ENSP00000467141.1:p.Pro33315Ser
ENST00000591111.5:c.95020C>T (TTN) ENSP00000465570.1:p.Pro31674Ser
ENST00000615779.4:c.95020C>T (TTN) ENSP00000483597.1:p.Pro31674Ser
NM_001256850.1:c.95020C>T (TTN) NP_001243779.1:p.Pro31674Ser
NM_001267550.2:c.99943C>T (TTN) MANE Select NP_001254479.2:p.Pro33315Ser
NM_003319.4:c.72748C>T (TTN) NP_003310.4:p.Pro24250Ser
NM_133378.4:c.92239C>T (TTN) NP_596869.4:p.Pro30747Ser
NM_133432.3:c.73123C>T (TTN) NP_597676.3:p.Pro24375Ser
NM_133437.4:c.73324C>T (TTN) NP_597681.4:p.Pro24442Ser
NR_038271.1:n.446+13530G>A (TTN-AS1)
NR_038272.1:n.317-195G>A (TTN-AS1)
XM_011511729.1:c.99040C>T (TTN) XP_011510031.1:p.Pro33014Ser
XM_011511730.1:c.72934C>T (TTN) XP_011510032.1:p.Pro24312Ser
XM_011511731.1:c.72793C>T (TTN) XP_011510033.1:p.Pro24265Ser
XM_017004819.1:c.98836C>T (TTN) XP_016860308.1:p.Pro32946Ser
XM_017004820.1:c.94234C>T (TTN) XP_016860309.1:p.Pro31412Ser
XM_017004821.1:c.94231C>T (TTN) XP_016860310.1:p.Pro31411Ser
XM_017004822.1:c.91273C>T (TTN) XP_016860311.1:p.Pro30425Ser
XM_017004823.1:c.72889C>T (TTN) XP_016860312.1:p.Pro24297Ser
XM_024453094.1:c.94384C>T (TTN) XP_024308862.1:p.Pro31462Ser
XM_024453095.1:c.94381C>T (TTN) XP_024308863.1:p.Pro31461Ser
XM_024453096.1:c.93814C>T (TTN) XP_024308864.1:p.Pro31272Ser
XM_024453097.1:c.91156C>T (TTN) XP_024308865.1:p.Pro30386Ser
XM_024453098.1:c.91075C>T (TTN) XP_024308866.1:p.Pro30359Ser
XM_024453099.1:c.72838C>T (TTN) XP_024308867.1:p.Pro24280Ser
XM_024453100.1:c.62692C>T (TTN) XP_024308868.1:p.Pro20898Ser