Canonical Allele Identifier: CA349411877

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532241A>G , CM000664.2:g.178532241A>G GRCh38
NC_000002.11:g.179396968A>G , CM000664.1:g.179396968A>G GRCh37
NC_000002.10:g.179105214A>G NCBI36
NG_011618.3:g.303562T>C , LRG_391:g.303562T>C
NG_051363.1:g.14415A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96670T>C (TTN) ENSP00000343764.6:p.Phe32224Leu
ENST00000342175.11:c.77755T>C (TTN) ENSP00000340554.6:p.Phe25919Leu
ENST00000359218.10:c.77554T>C (TTN) ENSP00000352154.5:p.Phe25852Leu
ENST00000342175.10:c.77755T>C (TTN) ENSP00000340554.6:p.Phe25919Leu
ENST00000342992.10:c.96670T>C (TTN) ENSP00000343764.6:p.Phe32224Leu
ENST00000359218.9:c.77554T>C (TTN) ENSP00000352154.5:p.Phe25852Leu
ENST00000460472.6:c.77179T>C (TTN) ENSP00000434586.1:p.Phe25727Leu
ENST00000589042.5:c.104374T>C (TTN) MANE Select ENSP00000467141.1:p.Phe34792Leu
ENST00000591111.5:c.99451T>C (TTN) ENSP00000465570.1:p.Phe33151Leu
ENST00000615779.4:c.99451T>C (TTN) ENSP00000483597.1:p.Phe33151Leu
NM_001256850.1:c.99451T>C (TTN) NP_001243779.1:p.Phe33151Leu
NM_001267550.2:c.104374T>C (TTN) MANE Select NP_001254479.2:p.Phe34792Leu
NM_003319.4:c.77179T>C (TTN) NP_003310.4:p.Phe25727Leu
NM_133378.4:c.96670T>C (TTN) NP_596869.4:p.Phe32224Leu
NM_133432.3:c.77554T>C (TTN) NP_597676.3:p.Phe25852Leu
NM_133437.4:c.77755T>C (TTN) NP_597681.4:p.Phe25919Leu
NR_038271.1:n.446+8605A>G (TTN-AS1)
NR_038272.1:n.220-3491A>G (TTN-AS1)
XM_011511729.1:c.103471T>C (TTN) XP_011510031.1:p.Phe34491Leu
XM_011511730.1:c.77365T>C (TTN) XP_011510032.1:p.Phe25789Leu
XM_011511731.1:c.77224T>C (TTN) XP_011510033.1:p.Phe25742Leu
XM_017004819.1:c.103267T>C (TTN) XP_016860308.1:p.Phe34423Leu
XM_017004820.1:c.98665T>C (TTN) XP_016860309.1:p.Phe32889Leu
XM_017004821.1:c.98662T>C (TTN) XP_016860310.1:p.Phe32888Leu
XM_017004822.1:c.95704T>C (TTN) XP_016860311.1:p.Phe31902Leu
XM_017004823.1:c.77320T>C (TTN) XP_016860312.1:p.Phe25774Leu
XM_024453094.1:c.98815T>C (TTN) XP_024308862.1:p.Phe32939Leu
XM_024453095.1:c.98812T>C (TTN) XP_024308863.1:p.Phe32938Leu
XM_024453096.1:c.98245T>C (TTN) XP_024308864.1:p.Phe32749Leu
XM_024453097.1:c.95587T>C (TTN) XP_024308865.1:p.Phe31863Leu
XM_024453098.1:c.95506T>C (TTN) XP_024308866.1:p.Phe31836Leu
XM_024453099.1:c.77269T>C (TTN) XP_024308867.1:p.Phe25757Leu
XM_024453100.1:c.67123T>C (TTN) XP_024308868.1:p.Phe22375Leu