Canonical Allele Identifier: CA349409917

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531710G>T , CM000664.2:g.178531710G>T GRCh38
NC_000002.11:g.179396437G>T , CM000664.1:g.179396437G>T GRCh37
NC_000002.10:g.179104683G>T NCBI36
NG_011618.3:g.304093C>A , LRG_391:g.304093C>A
NG_051363.1:g.13884G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104905C>A (TTN) MANE Select NP_001254479.2:p.Pro34969Thr
ENST00000589042.5:c.104905C>A (TTN) MANE Select ENSP00000467141.1:p.Pro34969Thr
NM_001256850.1:c.99982C>A (TTN) NP_001243779.1:p.Pro33328Thr
NM_003319.4:c.77710C>A (TTN) NP_003310.4:p.Pro25904Thr
NM_133378.4:c.97201C>A (TTN) NP_596869.4:p.Pro32401Thr
NM_133432.3:c.78085C>A (TTN) NP_597676.3:p.Pro26029Thr
NM_133437.4:c.78286C>A (TTN) NP_597681.4:p.Pro26096Thr
NR_038271.1:n.446+8074G>T (TTN-AS1)
NR_038272.1:n.220-4022G>T (TTN-AS1)
ENST00000342175.10:c.78286C>A (TTN) ENSP00000340554.6:p.Pro26096Thr
ENST00000342175.11:c.78286C>A (TTN) ENSP00000340554.6:p.Pro26096Thr
ENST00000342992.10:c.97201C>A (TTN) ENSP00000343764.6:p.Pro32401Thr
ENST00000342992.11:c.97201C>A (TTN) ENSP00000343764.6:p.Pro32401Thr
ENST00000359218.10:c.78085C>A (TTN) ENSP00000352154.5:p.Pro26029Thr
ENST00000359218.9:c.78085C>A (TTN) ENSP00000352154.5:p.Pro26029Thr
ENST00000460472.6:c.77710C>A (TTN) ENSP00000434586.1:p.Pro25904Thr
ENST00000591111.5:c.99982C>A (TTN) ENSP00000465570.1:p.Pro33328Thr
ENST00000615779.4:c.99982C>A (TTN) ENSP00000483597.1:p.Pro33328Thr
XM_011511729.1:c.104002C>A (TTN) XP_011510031.1:p.Pro34668Thr
XM_011511730.1:c.77896C>A (TTN) XP_011510032.1:p.Pro25966Thr
XM_011511731.1:c.77755C>A (TTN) XP_011510033.1:p.Pro25919Thr
XM_017004819.1:c.103798C>A (TTN) XP_016860308.1:p.Pro34600Thr
XM_017004820.1:c.99196C>A (TTN) XP_016860309.1:p.Pro33066Thr
XM_017004821.1:c.99193C>A (TTN) XP_016860310.1:p.Pro33065Thr
XM_017004822.1:c.96235C>A (TTN) XP_016860311.1:p.Pro32079Thr
XM_017004823.1:c.77851C>A (TTN) XP_016860312.1:p.Pro25951Thr
XM_024453094.1:c.99346C>A (TTN) XP_024308862.1:p.Pro33116Thr
XM_024453095.1:c.99343C>A (TTN) XP_024308863.1:p.Pro33115Thr
XM_024453096.1:c.98776C>A (TTN) XP_024308864.1:p.Pro32926Thr
XM_024453097.1:c.96118C>A (TTN) XP_024308865.1:p.Pro32040Thr
XM_024453098.1:c.96037C>A (TTN) XP_024308866.1:p.Pro32013Thr
XM_024453099.1:c.77800C>A (TTN) XP_024308867.1:p.Pro25934Thr
XM_024453100.1:c.67654C>A (TTN) XP_024308868.1:p.Pro22552Thr