Canonical Allele Identifier: CA1985472
Community Standard Title: NM_001267550.2(TTN):c.104165C>T (p.Thr34722Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532450G>A , CM000664.2:g.178532450G>A GRCh38
NC_000002.11:g.179397177G>A , CM000664.1:g.179397177G>A GRCh37
NC_000002.10:g.179105423G>A NCBI36
NG_011618.3:g.303353C>T , LRG_391:g.303353C>T
NG_051363.1:g.14624G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104165C>T (TTN) MANE Select NP_001254479.2:p.Thr34722Ile
ENST00000589042.5:c.104165C>T (TTN) MANE Select ENSP00000467141.1:p.Thr34722Ile
NM_001256850.1:c.99242C>T (TTN) NP_001243779.1:p.Thr33081Ile
NM_003319.4:c.76970C>T (TTN) NP_003310.4:p.Thr25657Ile
NM_133378.4:c.96461C>T (TTN) NP_596869.4:p.Thr32154Ile
NM_133432.3:c.77345C>T (TTN) NP_597676.3:p.Thr25782Ile
NM_133437.4:c.77546C>T (TTN) NP_597681.4:p.Thr25849Ile
NR_038271.1:n.446+8814G>A (TTN-AS1)
NR_038272.1:n.220-3282G>A (TTN-AS1)
ENST00000342175.10:c.77546C>T (TTN) ENSP00000340554.6:p.Thr25849Ile
ENST00000342175.11:c.77546C>T (TTN) ENSP00000340554.6:p.Thr25849Ile
ENST00000342992.10:c.96461C>T (TTN) ENSP00000343764.6:p.Thr32154Ile
ENST00000342992.11:c.96461C>T (TTN) ENSP00000343764.6:p.Thr32154Ile
ENST00000359218.10:c.77345C>T (TTN) ENSP00000352154.5:p.Thr25782Ile
ENST00000359218.9:c.77345C>T (TTN) ENSP00000352154.5:p.Thr25782Ile
ENST00000460472.6:c.76970C>T (TTN) ENSP00000434586.1:p.Thr25657Ile
ENST00000591111.5:c.99242C>T (TTN) ENSP00000465570.1:p.Thr33081Ile
ENST00000615779.4:c.99242C>T (TTN) ENSP00000483597.1:p.Thr33081Ile
XM_011511729.1:c.103262C>T (TTN) XP_011510031.1:p.Thr34421Ile
XM_011511730.1:c.77156C>T (TTN) XP_011510032.1:p.Thr25719Ile
XM_011511731.1:c.77015C>T (TTN) XP_011510033.1:p.Thr25672Ile
XM_017004819.1:c.103058C>T (TTN) XP_016860308.1:p.Thr34353Ile
XM_017004820.1:c.98456C>T (TTN) XP_016860309.1:p.Thr32819Ile
XM_017004821.1:c.98453C>T (TTN) XP_016860310.1:p.Thr32818Ile
XM_017004822.1:c.95495C>T (TTN) XP_016860311.1:p.Thr31832Ile
XM_017004823.1:c.77111C>T (TTN) XP_016860312.1:p.Thr25704Ile
XM_024453094.1:c.98606C>T (TTN) XP_024308862.1:p.Thr32869Ile
XM_024453095.1:c.98603C>T (TTN) XP_024308863.1:p.Thr32868Ile
XM_024453096.1:c.98036C>T (TTN) XP_024308864.1:p.Thr32679Ile
XM_024453097.1:c.95378C>T (TTN) XP_024308865.1:p.Thr31793Ile
XM_024453098.1:c.95297C>T (TTN) XP_024308866.1:p.Thr31766Ile
XM_024453099.1:c.77060C>T (TTN) XP_024308867.1:p.Thr25687Ile
XM_024453100.1:c.66914C>T (TTN) XP_024308868.1:p.Thr22305Ile