Canonical Allele Identifier: CA349411956

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532276G>A , CM000664.2:g.178532276G>A GRCh38
NC_000002.11:g.179397003G>A , CM000664.1:g.179397003G>A GRCh37
NC_000002.10:g.179105249G>A NCBI36
NG_011618.3:g.303527C>T , LRG_391:g.303527C>T
NG_051363.1:g.14450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96635C>T (TTN) ENSP00000343764.6:p.Thr32212Ile
ENST00000342175.11:c.77720C>T (TTN) ENSP00000340554.6:p.Thr25907Ile
ENST00000359218.10:c.77519C>T (TTN) ENSP00000352154.5:p.Thr25840Ile
ENST00000342175.10:c.77720C>T (TTN) ENSP00000340554.6:p.Thr25907Ile
ENST00000342992.10:c.96635C>T (TTN) ENSP00000343764.6:p.Thr32212Ile
ENST00000359218.9:c.77519C>T (TTN) ENSP00000352154.5:p.Thr25840Ile
ENST00000460472.6:c.77144C>T (TTN) ENSP00000434586.1:p.Thr25715Ile
ENST00000589042.5:c.104339C>T (TTN) MANE Select ENSP00000467141.1:p.Thr34780Ile
ENST00000591111.5:c.99416C>T (TTN) ENSP00000465570.1:p.Thr33139Ile
ENST00000615779.4:c.99416C>T (TTN) ENSP00000483597.1:p.Thr33139Ile
NM_001256850.1:c.99416C>T (TTN) NP_001243779.1:p.Thr33139Ile
NM_001267550.2:c.104339C>T (TTN) MANE Select NP_001254479.2:p.Thr34780Ile
NM_003319.4:c.77144C>T (TTN) NP_003310.4:p.Thr25715Ile
NM_133378.4:c.96635C>T (TTN) NP_596869.4:p.Thr32212Ile
NM_133432.3:c.77519C>T (TTN) NP_597676.3:p.Thr25840Ile
NM_133437.4:c.77720C>T (TTN) NP_597681.4:p.Thr25907Ile
NR_038271.1:n.446+8640G>A (TTN-AS1)
NR_038272.1:n.220-3456G>A (TTN-AS1)
XM_011511729.1:c.103436C>T (TTN) XP_011510031.1:p.Thr34479Ile
XM_011511730.1:c.77330C>T (TTN) XP_011510032.1:p.Thr25777Ile
XM_011511731.1:c.77189C>T (TTN) XP_011510033.1:p.Thr25730Ile
XM_017004819.1:c.103232C>T (TTN) XP_016860308.1:p.Thr34411Ile
XM_017004820.1:c.98630C>T (TTN) XP_016860309.1:p.Thr32877Ile
XM_017004821.1:c.98627C>T (TTN) XP_016860310.1:p.Thr32876Ile
XM_017004822.1:c.95669C>T (TTN) XP_016860311.1:p.Thr31890Ile
XM_017004823.1:c.77285C>T (TTN) XP_016860312.1:p.Thr25762Ile
XM_024453094.1:c.98780C>T (TTN) XP_024308862.1:p.Thr32927Ile
XM_024453095.1:c.98777C>T (TTN) XP_024308863.1:p.Thr32926Ile
XM_024453096.1:c.98210C>T (TTN) XP_024308864.1:p.Thr32737Ile
XM_024453097.1:c.95552C>T (TTN) XP_024308865.1:p.Thr31851Ile
XM_024453098.1:c.95471C>T (TTN) XP_024308866.1:p.Thr31824Ile
XM_024453099.1:c.77234C>T (TTN) XP_024308867.1:p.Thr25745Ile
XM_024453100.1:c.67088C>T (TTN) XP_024308868.1:p.Thr22363Ile