Canonical Allele Identifier: CA349406664

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530420T>A , CM000664.2:g.178530420T>A GRCh38
NC_000002.11:g.179395147T>A , CM000664.1:g.179395147T>A GRCh37
NC_000002.10:g.179103393T>A NCBI36
NG_011618.3:g.305383A>T , LRG_391:g.305383A>T
NG_051363.1:g.12594T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98491A>T (TTN) ENSP00000343764.6:p.Thr32831Ser
ENST00000342175.11:c.79576A>T (TTN) ENSP00000340554.6:p.Thr26526Ser
ENST00000359218.10:c.79375A>T (TTN) ENSP00000352154.5:p.Thr26459Ser
ENST00000342175.10:c.79576A>T (TTN) ENSP00000340554.6:p.Thr26526Ser
ENST00000342992.10:c.98491A>T (TTN) ENSP00000343764.6:p.Thr32831Ser
ENST00000359218.9:c.79375A>T (TTN) ENSP00000352154.5:p.Thr26459Ser
ENST00000460472.6:c.79000A>T (TTN) ENSP00000434586.1:p.Thr26334Ser
ENST00000589042.5:c.106195A>T (TTN) MANE Select ENSP00000467141.1:p.Thr35399Ser
ENST00000591111.5:c.101272A>T (TTN) ENSP00000465570.1:p.Thr33758Ser
ENST00000615779.4:c.101272A>T (TTN) ENSP00000483597.1:p.Thr33758Ser
NM_001256850.1:c.101272A>T (TTN) NP_001243779.1:p.Thr33758Ser
NM_001267550.2:c.106195A>T (TTN) MANE Select NP_001254479.2:p.Thr35399Ser
NM_003319.4:c.79000A>T (TTN) NP_003310.4:p.Thr26334Ser
NM_133378.4:c.98491A>T (TTN) NP_596869.4:p.Thr32831Ser
NM_133432.3:c.79375A>T (TTN) NP_597676.3:p.Thr26459Ser
NM_133437.4:c.79576A>T (TTN) NP_597681.4:p.Thr26526Ser
NR_038271.1:n.446+6784T>A (TTN-AS1)
NR_038272.1:n.220-5312T>A (TTN-AS1)
XM_011511729.1:c.105292A>T (TTN) XP_011510031.1:p.Thr35098Ser
XM_011511730.1:c.79186A>T (TTN) XP_011510032.1:p.Thr26396Ser
XM_011511731.1:c.79045A>T (TTN) XP_011510033.1:p.Thr26349Ser
XM_017004819.1:c.105088A>T (TTN) XP_016860308.1:p.Thr35030Ser
XM_017004820.1:c.100486A>T (TTN) XP_016860309.1:p.Thr33496Ser
XM_017004821.1:c.100483A>T (TTN) XP_016860310.1:p.Thr33495Ser
XM_017004822.1:c.97525A>T (TTN) XP_016860311.1:p.Thr32509Ser
XM_017004823.1:c.79141A>T (TTN) XP_016860312.1:p.Thr26381Ser
XM_024453094.1:c.100636A>T (TTN) XP_024308862.1:p.Thr33546Ser
XM_024453095.1:c.100633A>T (TTN) XP_024308863.1:p.Thr33545Ser
XM_024453096.1:c.100066A>T (TTN) XP_024308864.1:p.Thr33356Ser
XM_024453097.1:c.97408A>T (TTN) XP_024308865.1:p.Thr32470Ser
XM_024453098.1:c.97327A>T (TTN) XP_024308866.1:p.Thr32443Ser
XM_024453099.1:c.79090A>T (TTN) XP_024308867.1:p.Thr26364Ser
XM_024453100.1:c.68944A>T (TTN) XP_024308868.1:p.Thr22982Ser