Canonical Allele Identifier: CA349411879

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96670T>G (TTN) ENSP00000343764.6:p.Phe32224Val
ENST00000342175.11:c.77755T>G (TTN) ENSP00000340554.6:p.Phe25919Val
ENST00000359218.10:c.77554T>G (TTN) ENSP00000352154.5:p.Phe25852Val
ENST00000342175.10:c.77755T>G (TTN) ENSP00000340554.6:p.Phe25919Val
ENST00000342992.10:c.96670T>G (TTN) ENSP00000343764.6:p.Phe32224Val
ENST00000359218.9:c.77554T>G (TTN) ENSP00000352154.5:p.Phe25852Val
ENST00000460472.6:c.77179T>G (TTN) ENSP00000434586.1:p.Phe25727Val
ENST00000589042.5:c.104374T>G (TTN) MANE Select ENSP00000467141.1:p.Phe34792Val
ENST00000591111.5:c.99451T>G (TTN) ENSP00000465570.1:p.Phe33151Val
ENST00000615779.4:c.99451T>G (TTN) ENSP00000483597.1:p.Phe33151Val
NM_001256850.1:c.99451T>G (TTN) NP_001243779.1:p.Phe33151Val
NM_001267550.2:c.104374T>G (TTN) MANE Select NP_001254479.2:p.Phe34792Val
NM_003319.4:c.77179T>G (TTN) NP_003310.4:p.Phe25727Val
NM_133378.4:c.96670T>G (TTN) NP_596869.4:p.Phe32224Val
NM_133432.3:c.77554T>G (TTN) NP_597676.3:p.Phe25852Val
NM_133437.4:c.77755T>G (TTN) NP_597681.4:p.Phe25919Val
NR_038271.1:n.446+8605A>C (TTN-AS1)
NR_038272.1:n.220-3491A>C (TTN-AS1)
XM_011511729.1:c.103471T>G (TTN) XP_011510031.1:p.Phe34491Val
XM_011511730.1:c.77365T>G (TTN) XP_011510032.1:p.Phe25789Val
XM_011511731.1:c.77224T>G (TTN) XP_011510033.1:p.Phe25742Val
XM_017004819.1:c.103267T>G (TTN) XP_016860308.1:p.Phe34423Val
XM_017004820.1:c.98665T>G (TTN) XP_016860309.1:p.Phe32889Val
XM_017004821.1:c.98662T>G (TTN) XP_016860310.1:p.Phe32888Val
XM_017004822.1:c.95704T>G (TTN) XP_016860311.1:p.Phe31902Val
XM_017004823.1:c.77320T>G (TTN) XP_016860312.1:p.Phe25774Val
XM_024453094.1:c.98815T>G (TTN) XP_024308862.1:p.Phe32939Val
XM_024453095.1:c.98812T>G (TTN) XP_024308863.1:p.Phe32938Val
XM_024453096.1:c.98245T>G (TTN) XP_024308864.1:p.Phe32749Val
XM_024453097.1:c.95587T>G (TTN) XP_024308865.1:p.Phe31863Val
XM_024453098.1:c.95506T>G (TTN) XP_024308866.1:p.Phe31836Val
XM_024453099.1:c.77269T>G (TTN) XP_024308867.1:p.Phe25757Val
XM_024453100.1:c.67123T>G (TTN) XP_024308868.1:p.Phe22375Val