Canonical Allele Identifier: CA60972659
Community Standard Title: NM_001267550.2(TTN):c.94530A>G (p.Pro31510=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546898T>C , CM000664.2:g.178546898T>C GRCh38
NC_000002.11:g.179411625T>C , CM000664.1:g.179411625T>C GRCh37
NC_000002.10:g.179119871T>C NCBI36
NG_011618.3:g.288905A>G , LRG_391:g.288905A>G
NG_051363.1:g.29072T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94530A>G (TTN) MANE Select NP_001254479.2:p.Pro31510=
ENST00000589042.5:c.94530A>G (TTN) MANE Select ENSP00000467141.1:p.Pro31510=
NM_001256850.1:c.89607A>G (TTN) NP_001243779.1:p.Pro29869=
NM_003319.4:c.67335A>G (TTN) NP_003310.4:p.Pro22445=
NM_133378.4:c.86826A>G (TTN) NP_596869.4:p.Pro28942=
NM_133432.3:c.67710A>G (TTN) NP_597676.3:p.Pro22570=
NM_133437.4:c.67911A>G (TTN) NP_597681.4:p.Pro22637=
NR_038271.1:n.446+23262T>C (TTN-AS1)
NR_038272.1:n.2043+4537T>C (TTN-AS1)
ENST00000342175.10:c.67911A>G (TTN) ENSP00000340554.6:p.Pro22637=
ENST00000342175.11:c.67911A>G (TTN) ENSP00000340554.6:p.Pro22637=
ENST00000342992.10:c.86826A>G (TTN) ENSP00000343764.6:p.Pro28942=
ENST00000342992.11:c.86826A>G (TTN) ENSP00000343764.6:p.Pro28942=
ENST00000359218.10:c.67710A>G (TTN) ENSP00000352154.5:p.Pro22570=
ENST00000359218.9:c.67710A>G (TTN) ENSP00000352154.5:p.Pro22570=
ENST00000460472.6:c.67335A>G (TTN) ENSP00000434586.1:p.Pro22445=
ENST00000591111.5:c.89607A>G (TTN) ENSP00000465570.1:p.Pro29869=
ENST00000615779.4:c.89607A>G (TTN) ENSP00000483597.1:p.Pro29869=
XM_011511729.1:c.93627A>G (TTN) XP_011510031.1:p.Pro31209=
XM_011511730.1:c.67521A>G (TTN) XP_011510032.1:p.Pro22507=
XM_011511731.1:c.67380A>G (TTN) XP_011510033.1:p.Pro22460=
XM_017004819.1:c.93423A>G (TTN) XP_016860308.1:p.Pro31141=
XM_017004820.1:c.88821A>G (TTN) XP_016860309.1:p.Pro29607=
XM_017004821.1:c.88818A>G (TTN) XP_016860310.1:p.Pro29606=
XM_017004822.1:c.85860A>G (TTN) XP_016860311.1:p.Pro28620=
XM_017004823.1:c.67476A>G (TTN) XP_016860312.1:p.Pro22492=
XM_024453094.1:c.88971A>G (TTN) XP_024308862.1:p.Pro29657=
XM_024453095.1:c.88968A>G (TTN) XP_024308863.1:p.Pro29656=
XM_024453096.1:c.88401A>G (TTN) XP_024308864.1:p.Pro29467=
XM_024453097.1:c.85743A>G (TTN) XP_024308865.1:p.Pro28581=
XM_024453098.1:c.85662A>G (TTN) XP_024308866.1:p.Pro28554=
XM_024453099.1:c.67425A>G (TTN) XP_024308867.1:p.Pro22475=
XM_024453100.1:c.57279A>G (TTN) XP_024308868.1:p.Pro19093=