Canonical Allele Identifier: CA349405220

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530041T>A , CM000664.2:g.178530041T>A GRCh38
NC_000002.11:g.179394768T>A , CM000664.1:g.179394768T>A GRCh37
NC_000002.10:g.179103014T>A NCBI36
NG_011618.3:g.305762A>T , LRG_391:g.305762A>T
NG_051363.1:g.12215T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98746A>T (TTN) ENSP00000343764.6:p.Thr32916Ser
ENST00000342175.11:c.79831A>T (TTN) ENSP00000340554.6:p.Thr26611Ser
ENST00000359218.10:c.79630A>T (TTN) ENSP00000352154.5:p.Thr26544Ser
ENST00000342175.10:c.79831A>T (TTN) ENSP00000340554.6:p.Thr26611Ser
ENST00000342992.10:c.98746A>T (TTN) ENSP00000343764.6:p.Thr32916Ser
ENST00000359218.9:c.79630A>T (TTN) ENSP00000352154.5:p.Thr26544Ser
ENST00000460472.6:c.79255A>T (TTN) ENSP00000434586.1:p.Thr26419Ser
ENST00000589042.5:c.106450A>T (TTN) MANE Select ENSP00000467141.1:p.Thr35484Ser
ENST00000591111.5:c.101527A>T (TTN) ENSP00000465570.1:p.Thr33843Ser
ENST00000615779.4:c.101527A>T (TTN) ENSP00000483597.1:p.Thr33843Ser
NM_001256850.1:c.101527A>T (TTN) NP_001243779.1:p.Thr33843Ser
NM_001267550.2:c.106450A>T (TTN) MANE Select NP_001254479.2:p.Thr35484Ser
NM_003319.4:c.79255A>T (TTN) NP_003310.4:p.Thr26419Ser
NM_133378.4:c.98746A>T (TTN) NP_596869.4:p.Thr32916Ser
NM_133432.3:c.79630A>T (TTN) NP_597676.3:p.Thr26544Ser
NM_133437.4:c.79831A>T (TTN) NP_597681.4:p.Thr26611Ser
NR_038271.1:n.446+6405T>A (TTN-AS1)
NR_038272.1:n.220-5691T>A (TTN-AS1)
XM_011511729.1:c.105547A>T (TTN) XP_011510031.1:p.Thr35183Ser
XM_011511730.1:c.79441A>T (TTN) XP_011510032.1:p.Thr26481Ser
XM_011511731.1:c.79300A>T (TTN) XP_011510033.1:p.Thr26434Ser
XM_017004819.1:c.105343A>T (TTN) XP_016860308.1:p.Thr35115Ser
XM_017004820.1:c.100741A>T (TTN) XP_016860309.1:p.Thr33581Ser
XM_017004821.1:c.100738A>T (TTN) XP_016860310.1:p.Thr33580Ser
XM_017004822.1:c.97780A>T (TTN) XP_016860311.1:p.Thr32594Ser
XM_017004823.1:c.79396A>T (TTN) XP_016860312.1:p.Thr26466Ser
XM_024453094.1:c.100891A>T (TTN) XP_024308862.1:p.Thr33631Ser
XM_024453095.1:c.100888A>T (TTN) XP_024308863.1:p.Thr33630Ser
XM_024453096.1:c.100321A>T (TTN) XP_024308864.1:p.Thr33441Ser
XM_024453097.1:c.97663A>T (TTN) XP_024308865.1:p.Thr32555Ser
XM_024453098.1:c.97582A>T (TTN) XP_024308866.1:p.Thr32528Ser
XM_024453099.1:c.79345A>T (TTN) XP_024308867.1:p.Thr26449Ser
XM_024453100.1:c.69199A>T (TTN) XP_024308868.1:p.Thr23067Ser