Canonical Allele Identifier: CA1985339
Community Standard Title: NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531725T>A , CM000664.2:g.178531725T>A GRCh38
NC_000002.11:g.179396452T>A , CM000664.1:g.179396452T>A GRCh37
NC_000002.10:g.179104698T>A NCBI36
NG_011618.3:g.304078A>T , LRG_391:g.304078A>T
NG_051363.1:g.13899T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104890A>T (TTN) MANE Select NP_001254479.2:p.Asn34964Tyr
ENST00000589042.5:c.104890A>T (TTN) MANE Select ENSP00000467141.1:p.Asn34964Tyr
NM_001256850.1:c.99967A>T (TTN) NP_001243779.1:p.Asn33323Tyr
NM_003319.4:c.77695A>T (TTN) NP_003310.4:p.Asn25899Tyr
NM_133378.4:c.97186A>T (TTN) NP_596869.4:p.Asn32396Tyr
NM_133432.3:c.78070A>T (TTN) NP_597676.3:p.Asn26024Tyr
NM_133437.4:c.78271A>T (TTN) NP_597681.4:p.Asn26091Tyr
NR_038271.1:n.446+8089T>A (TTN-AS1)
NR_038272.1:n.220-4007T>A (TTN-AS1)
ENST00000342175.10:c.78271A>T (TTN) ENSP00000340554.6:p.Asn26091Tyr
ENST00000342175.11:c.78271A>T (TTN) ENSP00000340554.6:p.Asn26091Tyr
ENST00000342992.10:c.97186A>T (TTN) ENSP00000343764.6:p.Asn32396Tyr
ENST00000342992.11:c.97186A>T (TTN) ENSP00000343764.6:p.Asn32396Tyr
ENST00000359218.10:c.78070A>T (TTN) ENSP00000352154.5:p.Asn26024Tyr
ENST00000359218.9:c.78070A>T (TTN) ENSP00000352154.5:p.Asn26024Tyr
ENST00000460472.6:c.77695A>T (TTN) ENSP00000434586.1:p.Asn25899Tyr
ENST00000591111.5:c.99967A>T (TTN) ENSP00000465570.1:p.Asn33323Tyr
ENST00000615779.4:c.99967A>T (TTN) ENSP00000483597.1:p.Asn33323Tyr
XM_011511729.1:c.103987A>T (TTN) XP_011510031.1:p.Asn34663Tyr
XM_011511730.1:c.77881A>T (TTN) XP_011510032.1:p.Asn25961Tyr
XM_011511731.1:c.77740A>T (TTN) XP_011510033.1:p.Asn25914Tyr
XM_017004819.1:c.103783A>T (TTN) XP_016860308.1:p.Asn34595Tyr
XM_017004820.1:c.99181A>T (TTN) XP_016860309.1:p.Asn33061Tyr
XM_017004821.1:c.99178A>T (TTN) XP_016860310.1:p.Asn33060Tyr
XM_017004822.1:c.96220A>T (TTN) XP_016860311.1:p.Asn32074Tyr
XM_017004823.1:c.77836A>T (TTN) XP_016860312.1:p.Asn25946Tyr
XM_024453094.1:c.99331A>T (TTN) XP_024308862.1:p.Asn33111Tyr
XM_024453095.1:c.99328A>T (TTN) XP_024308863.1:p.Asn33110Tyr
XM_024453096.1:c.98761A>T (TTN) XP_024308864.1:p.Asn32921Tyr
XM_024453097.1:c.96103A>T (TTN) XP_024308865.1:p.Asn32035Tyr
XM_024453098.1:c.96022A>T (TTN) XP_024308866.1:p.Asn32008Tyr
XM_024453099.1:c.77785A>T (TTN) XP_024308867.1:p.Asn25929Tyr
XM_024453100.1:c.67639A>T (TTN) XP_024308868.1:p.Asn22547Tyr