Canonical Allele Identifier: CA349470812

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546689T>G , CM000664.2:g.178546689T>G GRCh38
NC_000002.11:g.179411416T>G , CM000664.1:g.179411416T>G GRCh37
NC_000002.10:g.179119662T>G NCBI36
NG_011618.3:g.289114A>C , LRG_391:g.289114A>C
NG_051363.1:g.28863T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87035A>C (TTN) ENSP00000343764.6:p.Tyr29012Ser
ENST00000342175.11:c.68120A>C (TTN) ENSP00000340554.6:p.Tyr22707Ser
ENST00000359218.10:c.67919A>C (TTN) ENSP00000352154.5:p.Tyr22640Ser
ENST00000342175.10:c.68120A>C (TTN) ENSP00000340554.6:p.Tyr22707Ser
ENST00000342992.10:c.87035A>C (TTN) ENSP00000343764.6:p.Tyr29012Ser
ENST00000359218.9:c.67919A>C (TTN) ENSP00000352154.5:p.Tyr22640Ser
ENST00000460472.6:c.67544A>C (TTN) ENSP00000434586.1:p.Tyr22515Ser
ENST00000589042.5:c.94739A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr31580Ser
ENST00000591111.5:c.89816A>C (TTN) ENSP00000465570.1:p.Tyr29939Ser
ENST00000615779.4:c.89816A>C (TTN) ENSP00000483597.1:p.Tyr29939Ser
NM_001256850.1:c.89816A>C (TTN) NP_001243779.1:p.Tyr29939Ser
NM_001267550.2:c.94739A>C (TTN) MANE Select NP_001254479.2:p.Tyr31580Ser
NM_003319.4:c.67544A>C (TTN) NP_003310.4:p.Tyr22515Ser
NM_133378.4:c.87035A>C (TTN) NP_596869.4:p.Tyr29012Ser
NM_133432.3:c.67919A>C (TTN) NP_597676.3:p.Tyr22640Ser
NM_133437.4:c.68120A>C (TTN) NP_597681.4:p.Tyr22707Ser
NR_038271.1:n.446+23053T>G (TTN-AS1)
NR_038272.1:n.2043+4328T>G (TTN-AS1)
XM_011511729.1:c.93836A>C (TTN) XP_011510031.1:p.Tyr31279Ser
XM_011511730.1:c.67730A>C (TTN) XP_011510032.1:p.Tyr22577Ser
XM_011511731.1:c.67589A>C (TTN) XP_011510033.1:p.Tyr22530Ser
XM_017004819.1:c.93632A>C (TTN) XP_016860308.1:p.Tyr31211Ser
XM_017004820.1:c.89030A>C (TTN) XP_016860309.1:p.Tyr29677Ser
XM_017004821.1:c.89027A>C (TTN) XP_016860310.1:p.Tyr29676Ser
XM_017004822.1:c.86069A>C (TTN) XP_016860311.1:p.Tyr28690Ser
XM_017004823.1:c.67685A>C (TTN) XP_016860312.1:p.Tyr22562Ser
XM_024453094.1:c.89180A>C (TTN) XP_024308862.1:p.Tyr29727Ser
XM_024453095.1:c.89177A>C (TTN) XP_024308863.1:p.Tyr29726Ser
XM_024453096.1:c.88610A>C (TTN) XP_024308864.1:p.Tyr29537Ser
XM_024453097.1:c.85952A>C (TTN) XP_024308865.1:p.Tyr28651Ser
XM_024453098.1:c.85871A>C (TTN) XP_024308866.1:p.Tyr28624Ser
XM_024453099.1:c.67634A>C (TTN) XP_024308867.1:p.Tyr22545Ser
XM_024453100.1:c.57488A>C (TTN) XP_024308868.1:p.Tyr19163Ser