Canonical Allele Identifier: CA349407233

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530608T>A , CM000664.2:g.178530608T>A GRCh38
NC_000002.11:g.179395335T>A , CM000664.1:g.179395335T>A GRCh37
NC_000002.10:g.179103581T>A NCBI36
NG_011618.3:g.305195A>T , LRG_391:g.305195A>T
NG_051363.1:g.12782T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98303A>T (TTN) ENSP00000343764.6:p.Tyr32768Phe
ENST00000342175.11:c.79388A>T (TTN) ENSP00000340554.6:p.Tyr26463Phe
ENST00000359218.10:c.79187A>T (TTN) ENSP00000352154.5:p.Tyr26396Phe
ENST00000342175.10:c.79388A>T (TTN) ENSP00000340554.6:p.Tyr26463Phe
ENST00000342992.10:c.98303A>T (TTN) ENSP00000343764.6:p.Tyr32768Phe
ENST00000359218.9:c.79187A>T (TTN) ENSP00000352154.5:p.Tyr26396Phe
ENST00000460472.6:c.78812A>T (TTN) ENSP00000434586.1:p.Tyr26271Phe
ENST00000589042.5:c.106007A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr35336Phe
ENST00000591111.5:c.101084A>T (TTN) ENSP00000465570.1:p.Tyr33695Phe
ENST00000615779.4:c.101084A>T (TTN) ENSP00000483597.1:p.Tyr33695Phe
NM_001256850.1:c.101084A>T (TTN) NP_001243779.1:p.Tyr33695Phe
NM_001267550.2:c.106007A>T (TTN) MANE Select NP_001254479.2:p.Tyr35336Phe
NM_003319.4:c.78812A>T (TTN) NP_003310.4:p.Tyr26271Phe
NM_133378.4:c.98303A>T (TTN) NP_596869.4:p.Tyr32768Phe
NM_133432.3:c.79187A>T (TTN) NP_597676.3:p.Tyr26396Phe
NM_133437.4:c.79388A>T (TTN) NP_597681.4:p.Tyr26463Phe
NR_038271.1:n.446+6972T>A (TTN-AS1)
NR_038272.1:n.220-5124T>A (TTN-AS1)
XM_011511729.1:c.105104A>T (TTN) XP_011510031.1:p.Tyr35035Phe
XM_011511730.1:c.78998A>T (TTN) XP_011510032.1:p.Tyr26333Phe
XM_011511731.1:c.78857A>T (TTN) XP_011510033.1:p.Tyr26286Phe
XM_017004819.1:c.104900A>T (TTN) XP_016860308.1:p.Tyr34967Phe
XM_017004820.1:c.100298A>T (TTN) XP_016860309.1:p.Tyr33433Phe
XM_017004821.1:c.100295A>T (TTN) XP_016860310.1:p.Tyr33432Phe
XM_017004822.1:c.97337A>T (TTN) XP_016860311.1:p.Tyr32446Phe
XM_017004823.1:c.78953A>T (TTN) XP_016860312.1:p.Tyr26318Phe
XM_024453094.1:c.100448A>T (TTN) XP_024308862.1:p.Tyr33483Phe
XM_024453095.1:c.100445A>T (TTN) XP_024308863.1:p.Tyr33482Phe
XM_024453096.1:c.99878A>T (TTN) XP_024308864.1:p.Tyr33293Phe
XM_024453097.1:c.97220A>T (TTN) XP_024308865.1:p.Tyr32407Phe
XM_024453098.1:c.97139A>T (TTN) XP_024308866.1:p.Tyr32380Phe
XM_024453099.1:c.78902A>T (TTN) XP_024308867.1:p.Tyr26301Phe
XM_024453100.1:c.68756A>T (TTN) XP_024308868.1:p.Tyr22919Phe