Canonical Allele Identifier: CA349407303

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530636T>A , CM000664.2:g.178530636T>A GRCh38
NC_000002.11:g.179395363T>A , CM000664.1:g.179395363T>A GRCh37
NC_000002.10:g.179103609T>A NCBI36
NG_011618.3:g.305167A>T , LRG_391:g.305167A>T
NG_051363.1:g.12810T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98275A>T (TTN) ENSP00000343764.6:p.Lys32759Ter
ENST00000342175.11:c.79360A>T (TTN) ENSP00000340554.6:p.Lys26454Ter
ENST00000359218.10:c.79159A>T (TTN) ENSP00000352154.5:p.Lys26387Ter
ENST00000342175.10:c.79360A>T (TTN) ENSP00000340554.6:p.Lys26454Ter
ENST00000342992.10:c.98275A>T (TTN) ENSP00000343764.6:p.Lys32759Ter
ENST00000359218.9:c.79159A>T (TTN) ENSP00000352154.5:p.Lys26387Ter
ENST00000460472.6:c.78784A>T (TTN) ENSP00000434586.1:p.Lys26262Ter
ENST00000589042.5:c.105979A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35327Ter
ENST00000591111.5:c.101056A>T (TTN) ENSP00000465570.1:p.Lys33686Ter
ENST00000615779.4:c.101056A>T (TTN) ENSP00000483597.1:p.Lys33686Ter
NM_001256850.1:c.101056A>T (TTN) NP_001243779.1:p.Lys33686Ter
NM_001267550.2:c.105979A>T (TTN) MANE Select NP_001254479.2:p.Lys35327Ter
NM_003319.4:c.78784A>T (TTN) NP_003310.4:p.Lys26262Ter
NM_133378.4:c.98275A>T (TTN) NP_596869.4:p.Lys32759Ter
NM_133432.3:c.79159A>T (TTN) NP_597676.3:p.Lys26387Ter
NM_133437.4:c.79360A>T (TTN) NP_597681.4:p.Lys26454Ter
NR_038271.1:n.446+7000T>A (TTN-AS1)
NR_038272.1:n.220-5096T>A (TTN-AS1)
XM_011511729.1:c.105076A>T (TTN) XP_011510031.1:p.Lys35026Ter
XM_011511730.1:c.78970A>T (TTN) XP_011510032.1:p.Lys26324Ter
XM_011511731.1:c.78829A>T (TTN) XP_011510033.1:p.Lys26277Ter
XM_017004819.1:c.104872A>T (TTN) XP_016860308.1:p.Lys34958Ter
XM_017004820.1:c.100270A>T (TTN) XP_016860309.1:p.Lys33424Ter
XM_017004821.1:c.100267A>T (TTN) XP_016860310.1:p.Lys33423Ter
XM_017004822.1:c.97309A>T (TTN) XP_016860311.1:p.Lys32437Ter
XM_017004823.1:c.78925A>T (TTN) XP_016860312.1:p.Lys26309Ter
XM_024453094.1:c.100420A>T (TTN) XP_024308862.1:p.Lys33474Ter
XM_024453095.1:c.100417A>T (TTN) XP_024308863.1:p.Lys33473Ter
XM_024453096.1:c.99850A>T (TTN) XP_024308864.1:p.Lys33284Ter
XM_024453097.1:c.97192A>T (TTN) XP_024308865.1:p.Lys32398Ter
XM_024453098.1:c.97111A>T (TTN) XP_024308866.1:p.Lys32371Ter
XM_024453099.1:c.78874A>T (TTN) XP_024308867.1:p.Lys26292Ter
XM_024453100.1:c.68728A>T (TTN) XP_024308868.1:p.Lys22910Ter