Canonical Allele Identifier: CA349411467

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532085A>T , CM000664.2:g.178532085A>T GRCh38
NC_000002.11:g.179396812A>T , CM000664.1:g.179396812A>T GRCh37
NC_000002.10:g.179105058A>T NCBI36
NG_011618.3:g.303718T>A , LRG_391:g.303718T>A
NG_051363.1:g.14259A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96826T>A (TTN) ENSP00000343764.6:p.Ser32276Thr
ENST00000342175.11:c.77911T>A (TTN) ENSP00000340554.6:p.Ser25971Thr
ENST00000359218.10:c.77710T>A (TTN) ENSP00000352154.5:p.Ser25904Thr
ENST00000342175.10:c.77911T>A (TTN) ENSP00000340554.6:p.Ser25971Thr
ENST00000342992.10:c.96826T>A (TTN) ENSP00000343764.6:p.Ser32276Thr
ENST00000359218.9:c.77710T>A (TTN) ENSP00000352154.5:p.Ser25904Thr
ENST00000460472.6:c.77335T>A (TTN) ENSP00000434586.1:p.Ser25779Thr
ENST00000589042.5:c.104530T>A (TTN) MANE Select ENSP00000467141.1:p.Ser34844Thr
ENST00000591111.5:c.99607T>A (TTN) ENSP00000465570.1:p.Ser33203Thr
ENST00000615779.4:c.99607T>A (TTN) ENSP00000483597.1:p.Ser33203Thr
NM_001256850.1:c.99607T>A (TTN) NP_001243779.1:p.Ser33203Thr
NM_001267550.2:c.104530T>A (TTN) MANE Select NP_001254479.2:p.Ser34844Thr
NM_003319.4:c.77335T>A (TTN) NP_003310.4:p.Ser25779Thr
NM_133378.4:c.96826T>A (TTN) NP_596869.4:p.Ser32276Thr
NM_133432.3:c.77710T>A (TTN) NP_597676.3:p.Ser25904Thr
NM_133437.4:c.77911T>A (TTN) NP_597681.4:p.Ser25971Thr
NR_038271.1:n.446+8449A>T (TTN-AS1)
NR_038272.1:n.220-3647A>T (TTN-AS1)
XM_011511729.1:c.103627T>A (TTN) XP_011510031.1:p.Ser34543Thr
XM_011511730.1:c.77521T>A (TTN) XP_011510032.1:p.Ser25841Thr
XM_011511731.1:c.77380T>A (TTN) XP_011510033.1:p.Ser25794Thr
XM_017004819.1:c.103423T>A (TTN) XP_016860308.1:p.Ser34475Thr
XM_017004820.1:c.98821T>A (TTN) XP_016860309.1:p.Ser32941Thr
XM_017004821.1:c.98818T>A (TTN) XP_016860310.1:p.Ser32940Thr
XM_017004822.1:c.95860T>A (TTN) XP_016860311.1:p.Ser31954Thr
XM_017004823.1:c.77476T>A (TTN) XP_016860312.1:p.Ser25826Thr
XM_024453094.1:c.98971T>A (TTN) XP_024308862.1:p.Ser32991Thr
XM_024453095.1:c.98968T>A (TTN) XP_024308863.1:p.Ser32990Thr
XM_024453096.1:c.98401T>A (TTN) XP_024308864.1:p.Ser32801Thr
XM_024453097.1:c.95743T>A (TTN) XP_024308865.1:p.Ser31915Thr
XM_024453098.1:c.95662T>A (TTN) XP_024308866.1:p.Ser31888Thr
XM_024453099.1:c.77425T>A (TTN) XP_024308867.1:p.Ser25809Thr
XM_024453100.1:c.67279T>A (TTN) XP_024308868.1:p.Ser22427Thr