Canonical Allele Identifier: CA430243311
Community Standard Title: NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548338A>G , CM000664.2:g.178548338A>G GRCh38
NC_000002.11:g.179413065A>G , CM000664.1:g.179413065A>G GRCh37
NC_000002.10:g.179121311A>G NCBI36
NG_011618.3:g.287465T>C , LRG_391:g.287465T>C
NG_051363.1:g.30512A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93288T>C (TTN) MANE Select NP_001254479.2:p.Tyr31096=
ENST00000589042.5:c.93288T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr31096=
NM_001256850.1:c.88365T>C (TTN) NP_001243779.1:p.Tyr29455=
NM_003319.4:c.66093T>C (TTN) NP_003310.4:p.Tyr22031=
NM_133378.4:c.85584T>C (TTN) NP_596869.4:p.Tyr28528=
NM_133432.3:c.66468T>C (TTN) NP_597676.3:p.Tyr22156=
NM_133437.4:c.66669T>C (TTN) NP_597681.4:p.Tyr22223=
NR_038271.1:n.447-22962A>G (TTN-AS1)
NR_038272.1:n.2043+5977A>G (TTN-AS1)
ENST00000342175.10:c.66669T>C (TTN) ENSP00000340554.6:p.Tyr22223=
ENST00000342175.11:c.66669T>C (TTN) ENSP00000340554.6:p.Tyr22223=
ENST00000342992.10:c.85584T>C (TTN) ENSP00000343764.6:p.Tyr28528=
ENST00000342992.11:c.85584T>C (TTN) ENSP00000343764.6:p.Tyr28528=
ENST00000359218.10:c.66468T>C (TTN) ENSP00000352154.5:p.Tyr22156=
ENST00000359218.9:c.66468T>C (TTN) ENSP00000352154.5:p.Tyr22156=
ENST00000460472.6:c.66093T>C (TTN) ENSP00000434586.1:p.Tyr22031=
ENST00000591111.5:c.88365T>C (TTN) ENSP00000465570.1:p.Tyr29455=
ENST00000615779.4:c.88365T>C (TTN) ENSP00000483597.1:p.Tyr29455=
XM_011511729.1:c.92385T>C (TTN) XP_011510031.1:p.Tyr30795=
XM_011511730.1:c.66279T>C (TTN) XP_011510032.1:p.Tyr22093=
XM_011511731.1:c.66138T>C (TTN) XP_011510033.1:p.Tyr22046=
XM_017004819.1:c.92181T>C (TTN) XP_016860308.1:p.Tyr30727=
XM_017004820.1:c.87579T>C (TTN) XP_016860309.1:p.Tyr29193=
XM_017004821.1:c.87576T>C (TTN) XP_016860310.1:p.Tyr29192=
XM_017004822.1:c.84618T>C (TTN) XP_016860311.1:p.Tyr28206=
XM_017004823.1:c.66234T>C (TTN) XP_016860312.1:p.Tyr22078=
XM_024453094.1:c.87729T>C (TTN) XP_024308862.1:p.Tyr29243=
XM_024453095.1:c.87726T>C (TTN) XP_024308863.1:p.Tyr29242=
XM_024453096.1:c.87159T>C (TTN) XP_024308864.1:p.Tyr29053=
XM_024453097.1:c.84501T>C (TTN) XP_024308865.1:p.Tyr28167=
XM_024453098.1:c.84420T>C (TTN) XP_024308866.1:p.Tyr28140=
XM_024453099.1:c.66183T>C (TTN) XP_024308867.1:p.Tyr22061=
XM_024453100.1:c.56037T>C (TTN) XP_024308868.1:p.Tyr18679=