Canonical Allele Identifier: CA349429094
Community Standard Title: NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581909G>A , CM000664.2:g.178581909G>A GRCh38
NC_000002.11:g.179446636G>A , CM000664.1:g.179446636G>A GRCh37
NC_000002.10:g.179154882G>A NCBI36
NG_011618.3:g.253894C>T , LRG_391:g.253894C>T
NG_051363.1:g.64083G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66460C>T (TTN) MANE Select NP_001254479.2:p.Gln22154Ter
ENST00000589042.5:c.66460C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22154Ter
NM_001256850.1:c.61537C>T (TTN) NP_001243779.1:p.Gln20513Ter
NM_003319.4:c.39265C>T (TTN) NP_003310.4:p.Gln13089Ter
NM_133378.4:c.58756C>T (TTN) NP_596869.4:p.Gln19586Ter
NM_133432.3:c.39640C>T (TTN) NP_597676.3:p.Gln13214Ter
NM_133437.4:c.39841C>T (TTN) NP_597681.4:p.Gln13281Ter
NR_038271.1:n.596+10460G>A (TTN-AS1)
NR_038272.1:n.2044-663G>A (TTN-AS1)
ENST00000342175.10:c.39841C>T (TTN) ENSP00000340554.6:p.Gln13281Ter
ENST00000342175.11:c.39841C>T (TTN) ENSP00000340554.6:p.Gln13281Ter
ENST00000342992.10:c.58756C>T (TTN) ENSP00000343764.6:p.Gln19586Ter
ENST00000342992.11:c.58756C>T (TTN) ENSP00000343764.6:p.Gln19586Ter
ENST00000359218.10:c.39640C>T (TTN) ENSP00000352154.5:p.Gln13214Ter
ENST00000359218.9:c.39640C>T (TTN) ENSP00000352154.5:p.Gln13214Ter
ENST00000460472.6:c.39265C>T (TTN) ENSP00000434586.1:p.Gln13089Ter
ENST00000591111.5:c.61537C>T (TTN) ENSP00000465570.1:p.Gln20513Ter
ENST00000615779.4:c.61537C>T (TTN) ENSP00000483597.1:p.Gln20513Ter
XM_011511729.1:c.65557C>T (TTN) XP_011510031.1:p.Gln21853Ter
XM_011511730.1:c.39451C>T (TTN) XP_011510032.1:p.Gln13151Ter
XM_011511731.1:c.39310C>T (TTN) XP_011510033.1:p.Gln13104Ter
XM_017004819.1:c.65353C>T (TTN) XP_016860308.1:p.Gln21785Ter
XM_017004820.1:c.60751C>T (TTN) XP_016860309.1:p.Gln20251Ter
XM_017004821.1:c.60748C>T (TTN) XP_016860310.1:p.Gln20250Ter
XM_017004822.1:c.57790C>T (TTN) XP_016860311.1:p.Gln19264Ter
XM_017004823.1:c.39406C>T (TTN) XP_016860312.1:p.Gln13136Ter
XM_024453094.1:c.60901C>T (TTN) XP_024308862.1:p.Gln20301Ter
XM_024453095.1:c.60898C>T (TTN) XP_024308863.1:p.Gln20300Ter
XM_024453096.1:c.60331C>T (TTN) XP_024308864.1:p.Gln20111Ter
XM_024453097.1:c.57673C>T (TTN) XP_024308865.1:p.Gln19225Ter
XM_024453098.1:c.57592C>T (TTN) XP_024308866.1:p.Gln19198Ter
XM_024453099.1:c.39355C>T (TTN) XP_024308867.1:p.Gln13119Ter
XM_024453100.1:c.29209C>T (TTN) XP_024308868.1:p.Gln9737Ter