Canonical Allele Identifier: CA349407305

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98275A>C (TTN) ENSP00000343764.6:p.Lys32759Gln
ENST00000342175.11:c.79360A>C (TTN) ENSP00000340554.6:p.Lys26454Gln
ENST00000359218.10:c.79159A>C (TTN) ENSP00000352154.5:p.Lys26387Gln
ENST00000342175.10:c.79360A>C (TTN) ENSP00000340554.6:p.Lys26454Gln
ENST00000342992.10:c.98275A>C (TTN) ENSP00000343764.6:p.Lys32759Gln
ENST00000359218.9:c.79159A>C (TTN) ENSP00000352154.5:p.Lys26387Gln
ENST00000460472.6:c.78784A>C (TTN) ENSP00000434586.1:p.Lys26262Gln
ENST00000589042.5:c.105979A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35327Gln
ENST00000591111.5:c.101056A>C (TTN) ENSP00000465570.1:p.Lys33686Gln
ENST00000615779.4:c.101056A>C (TTN) ENSP00000483597.1:p.Lys33686Gln
NM_001256850.1:c.101056A>C (TTN) NP_001243779.1:p.Lys33686Gln
NM_001267550.2:c.105979A>C (TTN) MANE Select NP_001254479.2:p.Lys35327Gln
NM_003319.4:c.78784A>C (TTN) NP_003310.4:p.Lys26262Gln
NM_133378.4:c.98275A>C (TTN) NP_596869.4:p.Lys32759Gln
NM_133432.3:c.79159A>C (TTN) NP_597676.3:p.Lys26387Gln
NM_133437.4:c.79360A>C (TTN) NP_597681.4:p.Lys26454Gln
NR_038271.1:n.446+7000T>G (TTN-AS1)
NR_038272.1:n.220-5096T>G (TTN-AS1)
XM_011511729.1:c.105076A>C (TTN) XP_011510031.1:p.Lys35026Gln
XM_011511730.1:c.78970A>C (TTN) XP_011510032.1:p.Lys26324Gln
XM_011511731.1:c.78829A>C (TTN) XP_011510033.1:p.Lys26277Gln
XM_017004819.1:c.104872A>C (TTN) XP_016860308.1:p.Lys34958Gln
XM_017004820.1:c.100270A>C (TTN) XP_016860309.1:p.Lys33424Gln
XM_017004821.1:c.100267A>C (TTN) XP_016860310.1:p.Lys33423Gln
XM_017004822.1:c.97309A>C (TTN) XP_016860311.1:p.Lys32437Gln
XM_017004823.1:c.78925A>C (TTN) XP_016860312.1:p.Lys26309Gln
XM_024453094.1:c.100420A>C (TTN) XP_024308862.1:p.Lys33474Gln
XM_024453095.1:c.100417A>C (TTN) XP_024308863.1:p.Lys33473Gln
XM_024453096.1:c.99850A>C (TTN) XP_024308864.1:p.Lys33284Gln
XM_024453097.1:c.97192A>C (TTN) XP_024308865.1:p.Lys32398Gln
XM_024453098.1:c.97111A>C (TTN) XP_024308866.1:p.Lys32371Gln
XM_024453099.1:c.78874A>C (TTN) XP_024308867.1:p.Lys26292Gln
XM_024453100.1:c.68728A>C (TTN) XP_024308868.1:p.Lys22910Gln