Canonical Allele Identifier: CA185365
Community Standard Title: NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546904A>G , CM000664.2:g.178546904A>G GRCh38
NC_000002.11:g.179411631A>G , CM000664.1:g.179411631A>G GRCh37
NC_000002.10:g.179119877A>G NCBI36
NG_011618.3:g.288899T>C , LRG_391:g.288899T>C
NG_051363.1:g.29078A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94524T>C (TTN) MANE Select NP_001254479.2:p.Asp31508=
ENST00000589042.5:c.94524T>C (TTN) MANE Select ENSP00000467141.1:p.Asp31508=
NM_001256850.1:c.89601T>C (TTN) NP_001243779.1:p.Asp29867=
NM_003319.4:c.67329T>C (TTN) NP_003310.4:p.Asp22443=
NM_133378.4:c.86820T>C (TTN) NP_596869.4:p.Asp28940=
NM_133432.3:c.67704T>C (TTN) NP_597676.3:p.Asp22568=
NM_133437.4:c.67905T>C (TTN) NP_597681.4:p.Asp22635=
NR_038271.1:n.446+23268A>G (TTN-AS1)
NR_038272.1:n.2043+4543A>G (TTN-AS1)
ENST00000342175.10:c.67905T>C (TTN) ENSP00000340554.6:p.Asp22635=
ENST00000342175.11:c.67905T>C (TTN) ENSP00000340554.6:p.Asp22635=
ENST00000342992.10:c.86820T>C (TTN) ENSP00000343764.6:p.Asp28940=
ENST00000342992.11:c.86820T>C (TTN) ENSP00000343764.6:p.Asp28940=
ENST00000359218.10:c.67704T>C (TTN) ENSP00000352154.5:p.Asp22568=
ENST00000359218.9:c.67704T>C (TTN) ENSP00000352154.5:p.Asp22568=
ENST00000460472.6:c.67329T>C (TTN) ENSP00000434586.1:p.Asp22443=
ENST00000591111.5:c.89601T>C (TTN) ENSP00000465570.1:p.Asp29867=
ENST00000615779.4:c.89601T>C (TTN) ENSP00000483597.1:p.Asp29867=
XM_011511729.1:c.93621T>C (TTN) XP_011510031.1:p.Asp31207=
XM_011511730.1:c.67515T>C (TTN) XP_011510032.1:p.Asp22505=
XM_011511731.1:c.67374T>C (TTN) XP_011510033.1:p.Asp22458=
XM_017004819.1:c.93417T>C (TTN) XP_016860308.1:p.Asp31139=
XM_017004820.1:c.88815T>C (TTN) XP_016860309.1:p.Asp29605=
XM_017004821.1:c.88812T>C (TTN) XP_016860310.1:p.Asp29604=
XM_017004822.1:c.85854T>C (TTN) XP_016860311.1:p.Asp28618=
XM_017004823.1:c.67470T>C (TTN) XP_016860312.1:p.Asp22490=
XM_024453094.1:c.88965T>C (TTN) XP_024308862.1:p.Asp29655=
XM_024453095.1:c.88962T>C (TTN) XP_024308863.1:p.Asp29654=
XM_024453096.1:c.88395T>C (TTN) XP_024308864.1:p.Asp29465=
XM_024453097.1:c.85737T>C (TTN) XP_024308865.1:p.Asp28579=
XM_024453098.1:c.85656T>C (TTN) XP_024308866.1:p.Asp28552=
XM_024453099.1:c.67419T>C (TTN) XP_024308867.1:p.Asp22473=
XM_024453100.1:c.57273T>C (TTN) XP_024308868.1:p.Asp19091=