Canonical Allele Identifier: CA1994305
Community Standard Title: NM_001267550.2(TTN):c.50835T>C (p.Asn16945=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611394A>G , CM000664.2:g.178611394A>G GRCh38
NC_000002.11:g.179476121A>G , CM000664.1:g.179476121A>G GRCh37
NC_000002.10:g.179184366A>G NCBI36
NG_011618.3:g.224409T>C , LRG_391:g.224409T>C
NG_051363.1:g.93568A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50835T>C (TTN) MANE Select NP_001254479.2:p.Asn16945=
ENST00000589042.5:c.50835T>C (TTN) MANE Select ENSP00000467141.1:p.Asn16945=
NM_001256850.1:c.45912T>C (TTN) NP_001243779.1:p.Asn15304=
NM_003319.4:c.23640T>C (TTN) NP_003310.4:p.Asn7880=
NM_133378.4:c.43131T>C (TTN) NP_596869.4:p.Asn14377=
NM_133432.3:c.24015T>C (TTN) NP_597676.3:p.Asn8005=
NM_133437.4:c.24216T>C (TTN) NP_597681.4:p.Asn8072=
NR_038271.1:n.783-2641A>G (TTN-AS1)
ENST00000342175.10:c.24216T>C (TTN) ENSP00000340554.6:p.Asn8072=
ENST00000342175.11:c.24216T>C (TTN) ENSP00000340554.6:p.Asn8072=
ENST00000342992.10:c.43131T>C (TTN) ENSP00000343764.6:p.Asn14377=
ENST00000342992.11:c.43131T>C (TTN) ENSP00000343764.6:p.Asn14377=
ENST00000359218.10:c.24015T>C (TTN) ENSP00000352154.5:p.Asn8005=
ENST00000359218.9:c.24015T>C (TTN) ENSP00000352154.5:p.Asn8005=
ENST00000460472.6:c.23640T>C (TTN) ENSP00000434586.1:p.Asn7880=
ENST00000591111.5:c.45912T>C (TTN) ENSP00000465570.1:p.Asn15304=
ENST00000615779.4:c.45912T>C (TTN) ENSP00000483597.1:p.Asn15304=
XM_011511729.1:c.49932T>C (TTN) XP_011510031.1:p.Asn16644=
XM_011511730.1:c.23826T>C (TTN) XP_011510032.1:p.Asn7942=
XM_011511731.1:c.23685T>C (TTN) XP_011510033.1:p.Asn7895=
XM_017004819.1:c.49728T>C (TTN) XP_016860308.1:p.Asn16576=
XM_017004820.1:c.45126T>C (TTN) XP_016860309.1:p.Asn15042=
XM_017004821.1:c.45123T>C (TTN) XP_016860310.1:p.Asn15041=
XM_017004822.1:c.42165T>C (TTN) XP_016860311.1:p.Asn14055=
XM_017004823.1:c.23781T>C (TTN) XP_016860312.1:p.Asn7927=
XM_024453094.1:c.45276T>C (TTN) XP_024308862.1:p.Asn15092=
XM_024453095.1:c.45273T>C (TTN) XP_024308863.1:p.Asn15091=
XM_024453096.1:c.44706T>C (TTN) XP_024308864.1:p.Asn14902=
XM_024453097.1:c.42048T>C (TTN) XP_024308865.1:p.Asn14016=
XM_024453098.1:c.41967T>C (TTN) XP_024308866.1:p.Asn13989=
XM_024453099.1:c.23730T>C (TTN) XP_024308867.1:p.Asn7910=
XM_024453100.1:c.13584T>C (TTN) XP_024308868.1:p.Asn4528=