Canonical Allele Identifier: CA60986805
Community Standard Title: NM_001267550.2(TTN):c.49638G>A (p.Lys16546=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613171C>T , CM000664.2:g.178613171C>T GRCh38
NC_000002.11:g.179477898C>T , CM000664.1:g.179477898C>T GRCh37
NC_000002.10:g.179186143C>T NCBI36
NG_011618.3:g.222632G>A , LRG_391:g.222632G>A
NG_051363.1:g.95345C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49638G>A (TTN) MANE Select NP_001254479.2:p.Lys16546=
ENST00000589042.5:c.49638G>A (TTN) MANE Select ENSP00000467141.1:p.Lys16546=
NM_001256850.1:c.44715G>A (TTN) NP_001243779.1:p.Lys14905=
NM_003319.4:c.22443G>A (TTN) NP_003310.4:p.Lys7481=
NM_133378.4:c.41934G>A (TTN) NP_596869.4:p.Lys13978=
NM_133432.3:c.22818G>A (TTN) NP_597676.3:p.Lys7606=
NM_133437.4:c.23019G>A (TTN) NP_597681.4:p.Lys7673=
NR_038271.1:n.783-864C>T (TTN-AS1)
ENST00000342175.10:c.23019G>A (TTN) ENSP00000340554.6:p.Lys7673=
ENST00000342175.11:c.23019G>A (TTN) ENSP00000340554.6:p.Lys7673=
ENST00000342992.10:c.41934G>A (TTN) ENSP00000343764.6:p.Lys13978=
ENST00000342992.11:c.41934G>A (TTN) ENSP00000343764.6:p.Lys13978=
ENST00000359218.10:c.22818G>A (TTN) ENSP00000352154.5:p.Lys7606=
ENST00000359218.9:c.22818G>A (TTN) ENSP00000352154.5:p.Lys7606=
ENST00000460472.6:c.22443G>A (TTN) ENSP00000434586.1:p.Lys7481=
ENST00000591111.5:c.44715G>A (TTN) ENSP00000465570.1:p.Lys14905=
ENST00000615779.4:c.44715G>A (TTN) ENSP00000483597.1:p.Lys14905=
XM_011511729.1:c.48735G>A (TTN) XP_011510031.1:p.Lys16245=
XM_011511730.1:c.22629G>A (TTN) XP_011510032.1:p.Lys7543=
XM_011511731.1:c.22488G>A (TTN) XP_011510033.1:p.Lys7496=
XM_017004819.1:c.48531G>A (TTN) XP_016860308.1:p.Lys16177=
XM_017004820.1:c.43929G>A (TTN) XP_016860309.1:p.Lys14643=
XM_017004821.1:c.43926G>A (TTN) XP_016860310.1:p.Lys14642=
XM_017004822.1:c.40968G>A (TTN) XP_016860311.1:p.Lys13656=
XM_017004823.1:c.22584G>A (TTN) XP_016860312.1:p.Lys7528=
XM_024453094.1:c.44079G>A (TTN) XP_024308862.1:p.Lys14693=
XM_024453095.1:c.44076G>A (TTN) XP_024308863.1:p.Lys14692=
XM_024453096.1:c.43509G>A (TTN) XP_024308864.1:p.Lys14503=
XM_024453097.1:c.40851G>A (TTN) XP_024308865.1:p.Lys13617=
XM_024453098.1:c.40770G>A (TTN) XP_024308866.1:p.Lys13590=
XM_024453099.1:c.22533G>A (TTN) XP_024308867.1:p.Lys7511=
XM_024453100.1:c.12387G>A (TTN) XP_024308868.1:p.Lys4129=