Canonical Allele Identifier: CA349411875

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532240A>G , CM000664.2:g.178532240A>G GRCh38
NC_000002.11:g.179396967A>G , CM000664.1:g.179396967A>G GRCh37
NC_000002.10:g.179105213A>G NCBI36
NG_011618.3:g.303563T>C , LRG_391:g.303563T>C
NG_051363.1:g.14414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96671T>C (TTN) ENSP00000343764.6:p.Phe32224Ser
ENST00000342175.11:c.77756T>C (TTN) ENSP00000340554.6:p.Phe25919Ser
ENST00000359218.10:c.77555T>C (TTN) ENSP00000352154.5:p.Phe25852Ser
ENST00000342175.10:c.77756T>C (TTN) ENSP00000340554.6:p.Phe25919Ser
ENST00000342992.10:c.96671T>C (TTN) ENSP00000343764.6:p.Phe32224Ser
ENST00000359218.9:c.77555T>C (TTN) ENSP00000352154.5:p.Phe25852Ser
ENST00000460472.6:c.77180T>C (TTN) ENSP00000434586.1:p.Phe25727Ser
ENST00000589042.5:c.104375T>C (TTN) MANE Select ENSP00000467141.1:p.Phe34792Ser
ENST00000591111.5:c.99452T>C (TTN) ENSP00000465570.1:p.Phe33151Ser
ENST00000615779.4:c.99452T>C (TTN) ENSP00000483597.1:p.Phe33151Ser
NM_001256850.1:c.99452T>C (TTN) NP_001243779.1:p.Phe33151Ser
NM_001267550.2:c.104375T>C (TTN) MANE Select NP_001254479.2:p.Phe34792Ser
NM_003319.4:c.77180T>C (TTN) NP_003310.4:p.Phe25727Ser
NM_133378.4:c.96671T>C (TTN) NP_596869.4:p.Phe32224Ser
NM_133432.3:c.77555T>C (TTN) NP_597676.3:p.Phe25852Ser
NM_133437.4:c.77756T>C (TTN) NP_597681.4:p.Phe25919Ser
NR_038271.1:n.446+8604A>G (TTN-AS1)
NR_038272.1:n.220-3492A>G (TTN-AS1)
XM_011511729.1:c.103472T>C (TTN) XP_011510031.1:p.Phe34491Ser
XM_011511730.1:c.77366T>C (TTN) XP_011510032.1:p.Phe25789Ser
XM_011511731.1:c.77225T>C (TTN) XP_011510033.1:p.Phe25742Ser
XM_017004819.1:c.103268T>C (TTN) XP_016860308.1:p.Phe34423Ser
XM_017004820.1:c.98666T>C (TTN) XP_016860309.1:p.Phe32889Ser
XM_017004821.1:c.98663T>C (TTN) XP_016860310.1:p.Phe32888Ser
XM_017004822.1:c.95705T>C (TTN) XP_016860311.1:p.Phe31902Ser
XM_017004823.1:c.77321T>C (TTN) XP_016860312.1:p.Phe25774Ser
XM_024453094.1:c.98816T>C (TTN) XP_024308862.1:p.Phe32939Ser
XM_024453095.1:c.98813T>C (TTN) XP_024308863.1:p.Phe32938Ser
XM_024453096.1:c.98246T>C (TTN) XP_024308864.1:p.Phe32749Ser
XM_024453097.1:c.95588T>C (TTN) XP_024308865.1:p.Phe31863Ser
XM_024453098.1:c.95507T>C (TTN) XP_024308866.1:p.Phe31836Ser
XM_024453099.1:c.77270T>C (TTN) XP_024308867.1:p.Phe25757Ser
XM_024453100.1:c.67124T>C (TTN) XP_024308868.1:p.Phe22375Ser