Canonical Allele Identifier: CA243696
Community Standard Title: NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531955G>A , CM000664.2:g.178531955G>A GRCh38
NC_000002.11:g.179396682G>A , CM000664.1:g.179396682G>A GRCh37
NC_000002.10:g.179104928G>A NCBI36
NG_011618.3:g.303848C>T , LRG_391:g.303848C>T
NG_051363.1:g.14129G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104660C>T (TTN) MANE Select NP_001254479.2:p.Pro34887Leu
ENST00000589042.5:c.104660C>T (TTN) MANE Select ENSP00000467141.1:p.Pro34887Leu
NM_001256850.1:c.99737C>T (TTN) NP_001243779.1:p.Pro33246Leu
NM_003319.4:c.77465C>T (TTN) NP_003310.4:p.Pro25822Leu
NM_133378.4:c.96956C>T (TTN) NP_596869.4:p.Pro32319Leu
NM_133432.3:c.77840C>T (TTN) NP_597676.3:p.Pro25947Leu
NM_133437.4:c.78041C>T (TTN) NP_597681.4:p.Pro26014Leu
NR_038271.1:n.446+8319G>A (TTN-AS1)
NR_038272.1:n.220-3777G>A (TTN-AS1)
ENST00000342175.10:c.78041C>T (TTN) ENSP00000340554.6:p.Pro26014Leu
ENST00000342175.11:c.78041C>T (TTN) ENSP00000340554.6:p.Pro26014Leu
ENST00000342992.10:c.96956C>T (TTN) ENSP00000343764.6:p.Pro32319Leu
ENST00000342992.11:c.96956C>T (TTN) ENSP00000343764.6:p.Pro32319Leu
ENST00000359218.10:c.77840C>T (TTN) ENSP00000352154.5:p.Pro25947Leu
ENST00000359218.9:c.77840C>T (TTN) ENSP00000352154.5:p.Pro25947Leu
ENST00000460472.6:c.77465C>T (TTN) ENSP00000434586.1:p.Pro25822Leu
ENST00000591111.5:c.99737C>T (TTN) ENSP00000465570.1:p.Pro33246Leu
ENST00000615779.4:c.99737C>T (TTN) ENSP00000483597.1:p.Pro33246Leu
XM_011511729.1:c.103757C>T (TTN) XP_011510031.1:p.Pro34586Leu
XM_011511730.1:c.77651C>T (TTN) XP_011510032.1:p.Pro25884Leu
XM_011511731.1:c.77510C>T (TTN) XP_011510033.1:p.Pro25837Leu
XM_017004819.1:c.103553C>T (TTN) XP_016860308.1:p.Pro34518Leu
XM_017004820.1:c.98951C>T (TTN) XP_016860309.1:p.Pro32984Leu
XM_017004821.1:c.98948C>T (TTN) XP_016860310.1:p.Pro32983Leu
XM_017004822.1:c.95990C>T (TTN) XP_016860311.1:p.Pro31997Leu
XM_017004823.1:c.77606C>T (TTN) XP_016860312.1:p.Pro25869Leu
XM_024453094.1:c.99101C>T (TTN) XP_024308862.1:p.Pro33034Leu
XM_024453095.1:c.99098C>T (TTN) XP_024308863.1:p.Pro33033Leu
XM_024453096.1:c.98531C>T (TTN) XP_024308864.1:p.Pro32844Leu
XM_024453097.1:c.95873C>T (TTN) XP_024308865.1:p.Pro31958Leu
XM_024453098.1:c.95792C>T (TTN) XP_024308866.1:p.Pro31931Leu
XM_024453099.1:c.77555C>T (TTN) XP_024308867.1:p.Pro25852Leu
XM_024453100.1:c.67409C>T (TTN) XP_024308868.1:p.Pro22470Leu