Canonical Allele Identifier: CA349661692
Community Standard Title: NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575418G>A , CM000664.2:g.178575418G>A GRCh38
NC_000002.11:g.179440145G>A , CM000664.1:g.179440145G>A GRCh37
NC_000002.10:g.179148391G>A NCBI36
NG_011618.3:g.260385C>T , LRG_391:g.260385C>T
NG_051363.1:g.57592G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70714C>T (TTN) MANE Select NP_001254479.2:p.Gln23572Ter
ENST00000589042.5:c.70714C>T (TTN) MANE Select ENSP00000467141.1:p.Gln23572Ter
NM_001256850.1:c.65791C>T (TTN) NP_001243779.1:p.Gln21931Ter
NM_003319.4:c.43519C>T (TTN) NP_003310.4:p.Gln14507Ter
NM_133378.4:c.63010C>T (TTN) NP_596869.4:p.Gln21004Ter
NM_133432.3:c.43894C>T (TTN) NP_597676.3:p.Gln14632Ter
NM_133437.4:c.44095C>T (TTN) NP_597681.4:p.Gln14699Ter
NR_038271.1:n.596+3969G>A (TTN-AS1)
NR_038272.1:n.2044-7154G>A (TTN-AS1)
ENST00000342175.10:c.44095C>T (TTN) ENSP00000340554.6:p.Gln14699Ter
ENST00000342175.11:c.44095C>T (TTN) ENSP00000340554.6:p.Gln14699Ter
ENST00000342992.10:c.63010C>T (TTN) ENSP00000343764.6:p.Gln21004Ter
ENST00000342992.11:c.63010C>T (TTN) ENSP00000343764.6:p.Gln21004Ter
ENST00000359218.10:c.43894C>T (TTN) ENSP00000352154.5:p.Gln14632Ter
ENST00000359218.9:c.43894C>T (TTN) ENSP00000352154.5:p.Gln14632Ter
ENST00000460472.6:c.43519C>T (TTN) ENSP00000434586.1:p.Gln14507Ter
ENST00000591111.5:c.65791C>T (TTN) ENSP00000465570.1:p.Gln21931Ter
ENST00000615779.4:c.65791C>T (TTN) ENSP00000483597.1:p.Gln21931Ter
XM_011511729.1:c.69811C>T (TTN) XP_011510031.1:p.Gln23271Ter
XM_011511730.1:c.43705C>T (TTN) XP_011510032.1:p.Gln14569Ter
XM_011511731.1:c.43564C>T (TTN) XP_011510033.1:p.Gln14522Ter
XM_017004819.1:c.69607C>T (TTN) XP_016860308.1:p.Gln23203Ter
XM_017004820.1:c.65005C>T (TTN) XP_016860309.1:p.Gln21669Ter
XM_017004821.1:c.65002C>T (TTN) XP_016860310.1:p.Gln21668Ter
XM_017004822.1:c.62044C>T (TTN) XP_016860311.1:p.Gln20682Ter
XM_017004823.1:c.43660C>T (TTN) XP_016860312.1:p.Gln14554Ter
XM_024453094.1:c.65155C>T (TTN) XP_024308862.1:p.Gln21719Ter
XM_024453095.1:c.65152C>T (TTN) XP_024308863.1:p.Gln21718Ter
XM_024453096.1:c.64585C>T (TTN) XP_024308864.1:p.Gln21529Ter
XM_024453097.1:c.61927C>T (TTN) XP_024308865.1:p.Gln20643Ter
XM_024453098.1:c.61846C>T (TTN) XP_024308866.1:p.Gln20616Ter
XM_024453099.1:c.43609C>T (TTN) XP_024308867.1:p.Gln14537Ter
XM_024453100.1:c.33463C>T (TTN) XP_024308868.1:p.Gln11155Ter