Canonical Allele Identifier: CA349616561
Community Standard Title: NM_001267550.2(TTN):c.47506C>A (p.Gln15836Lys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617845G>T , CM000664.2:g.178617845G>T GRCh38
NC_000002.11:g.179482572G>T , CM000664.1:g.179482572G>T GRCh37
NC_000002.10:g.179190817G>T NCBI36
NG_011618.3:g.217958C>A , LRG_391:g.217958C>A
NG_051363.1:g.100019G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47506C>A (TTN) MANE Select NP_001254479.2:p.Gln15836Lys
ENST00000589042.5:c.47506C>A (TTN) MANE Select ENSP00000467141.1:p.Gln15836Lys
NM_001256850.1:c.42583C>A (TTN) NP_001243779.1:p.Gln14195Lys
NM_003319.4:c.20311C>A (TTN) NP_003310.4:p.Gln6771Lys
NM_133378.4:c.39802C>A (TTN) NP_596869.4:p.Gln13268Lys
NM_133432.3:c.20686C>A (TTN) NP_597676.3:p.Gln6896Lys
NM_133437.4:c.20887C>A (TTN) NP_597681.4:p.Gln6963Lys
NR_038271.1:n.1605-1908G>T (TTN-AS1)
ENST00000342175.10:c.20887C>A (TTN) ENSP00000340554.6:p.Gln6963Lys
ENST00000342175.11:c.20887C>A (TTN) ENSP00000340554.6:p.Gln6963Lys
ENST00000342992.10:c.39802C>A (TTN) ENSP00000343764.6:p.Gln13268Lys
ENST00000342992.11:c.39802C>A (TTN) ENSP00000343764.6:p.Gln13268Lys
ENST00000359218.10:c.20686C>A (TTN) ENSP00000352154.5:p.Gln6896Lys
ENST00000359218.9:c.20686C>A (TTN) ENSP00000352154.5:p.Gln6896Lys
ENST00000460472.6:c.20311C>A (TTN) ENSP00000434586.1:p.Gln6771Lys
ENST00000591111.5:c.42583C>A (TTN) ENSP00000465570.1:p.Gln14195Lys
ENST00000615779.4:c.42583C>A (TTN) ENSP00000483597.1:p.Gln14195Lys
XM_011511729.1:c.46603C>A (TTN) XP_011510031.1:p.Gln15535Lys
XM_011511730.1:c.20497C>A (TTN) XP_011510032.1:p.Gln6833Lys
XM_011511731.1:c.20356C>A (TTN) XP_011510033.1:p.Gln6786Lys
XM_017004819.1:c.46399C>A (TTN) XP_016860308.1:p.Gln15467Lys
XM_017004820.1:c.41797C>A (TTN) XP_016860309.1:p.Gln13933Lys
XM_017004821.1:c.41794C>A (TTN) XP_016860310.1:p.Gln13932Lys
XM_017004822.1:c.38836C>A (TTN) XP_016860311.1:p.Gln12946Lys
XM_017004823.1:c.20452C>A (TTN) XP_016860312.1:p.Gln6818Lys
XM_024453094.1:c.41947C>A (TTN) XP_024308862.1:p.Gln13983Lys
XM_024453095.1:c.41944C>A (TTN) XP_024308863.1:p.Gln13982Lys
XM_024453096.1:c.41377C>A (TTN) XP_024308864.1:p.Gln13793Lys
XM_024453097.1:c.38719C>A (TTN) XP_024308865.1:p.Gln12907Lys
XM_024453098.1:c.38638C>A (TTN) XP_024308866.1:p.Gln12880Lys
XM_024453099.1:c.20401C>A (TTN) XP_024308867.1:p.Gln6801Lys
XM_024453100.1:c.10255C>A (TTN) XP_024308868.1:p.Gln3419Lys