Canonical Allele Identifier: CA430257837
Community Standard Title: NM_001267550.2(TTN):c.71145T>C (p.Val23715=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574987A>G , CM000664.2:g.178574987A>G GRCh38
NC_000002.11:g.179439714A>G , CM000664.1:g.179439714A>G GRCh37
NC_000002.10:g.179147960A>G NCBI36
NG_011618.3:g.260816T>C , LRG_391:g.260816T>C
NG_051363.1:g.57161A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.71145T>C (TTN) MANE Select NP_001254479.2:p.Val23715=
ENST00000589042.5:c.71145T>C (TTN) MANE Select ENSP00000467141.1:p.Val23715=
NM_001256850.1:c.66222T>C (TTN) NP_001243779.1:p.Val22074=
NM_003319.4:c.43950T>C (TTN) NP_003310.4:p.Val14650=
NM_133378.4:c.63441T>C (TTN) NP_596869.4:p.Val21147=
NM_133432.3:c.44325T>C (TTN) NP_597676.3:p.Val14775=
NM_133437.4:c.44526T>C (TTN) NP_597681.4:p.Val14842=
NR_038271.1:n.596+3538A>G (TTN-AS1)
NR_038272.1:n.2044-7585A>G (TTN-AS1)
ENST00000342175.10:c.44526T>C (TTN) ENSP00000340554.6:p.Val14842=
ENST00000342175.11:c.44526T>C (TTN) ENSP00000340554.6:p.Val14842=
ENST00000342992.10:c.63441T>C (TTN) ENSP00000343764.6:p.Val21147=
ENST00000342992.11:c.63441T>C (TTN) ENSP00000343764.6:p.Val21147=
ENST00000359218.10:c.44325T>C (TTN) ENSP00000352154.5:p.Val14775=
ENST00000359218.9:c.44325T>C (TTN) ENSP00000352154.5:p.Val14775=
ENST00000460472.6:c.43950T>C (TTN) ENSP00000434586.1:p.Val14650=
ENST00000591111.5:c.66222T>C (TTN) ENSP00000465570.1:p.Val22074=
ENST00000615779.4:c.66222T>C (TTN) ENSP00000483597.1:p.Val22074=
XM_011511729.1:c.70242T>C (TTN) XP_011510031.1:p.Val23414=
XM_011511730.1:c.44136T>C (TTN) XP_011510032.1:p.Val14712=
XM_011511731.1:c.43995T>C (TTN) XP_011510033.1:p.Val14665=
XM_017004819.1:c.70038T>C (TTN) XP_016860308.1:p.Val23346=
XM_017004820.1:c.65436T>C (TTN) XP_016860309.1:p.Val21812=
XM_017004821.1:c.65433T>C (TTN) XP_016860310.1:p.Val21811=
XM_017004822.1:c.62475T>C (TTN) XP_016860311.1:p.Val20825=
XM_017004823.1:c.44091T>C (TTN) XP_016860312.1:p.Val14697=
XM_024453094.1:c.65586T>C (TTN) XP_024308862.1:p.Val21862=
XM_024453095.1:c.65583T>C (TTN) XP_024308863.1:p.Val21861=
XM_024453096.1:c.65016T>C (TTN) XP_024308864.1:p.Val21672=
XM_024453097.1:c.62358T>C (TTN) XP_024308865.1:p.Val20786=
XM_024453098.1:c.62277T>C (TTN) XP_024308866.1:p.Val20759=
XM_024453099.1:c.44040T>C (TTN) XP_024308867.1:p.Val14680=
XM_024453100.1:c.33894T>C (TTN) XP_024308868.1:p.Val11298=