Canonical Allele Identifier: CA430236659
Community Standard Title: NM_001267550.2(TTN):c.103524C>G (p.Val34508=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533091G>C , CM000664.2:g.178533091G>C GRCh38
NC_000002.11:g.179397818G>C , CM000664.1:g.179397818G>C GRCh37
NC_000002.10:g.179106064G>C NCBI36
NG_011618.3:g.302712C>G , LRG_391:g.302712C>G
NG_051363.1:g.15265G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103524C>G (TTN) MANE Select NP_001254479.2:p.Val34508=
ENST00000589042.5:c.103524C>G (TTN) MANE Select ENSP00000467141.1:p.Val34508=
NM_001256850.1:c.98601C>G (TTN) NP_001243779.1:p.Val32867=
NM_003319.4:c.76329C>G (TTN) NP_003310.4:p.Val25443=
NM_133378.4:c.95820C>G (TTN) NP_596869.4:p.Val31940=
NM_133432.3:c.76704C>G (TTN) NP_597676.3:p.Val25568=
NM_133437.4:c.76905C>G (TTN) NP_597681.4:p.Val25635=
NR_038271.1:n.446+9455G>C (TTN-AS1)
NR_038272.1:n.220-2641G>C (TTN-AS1)
ENST00000342175.10:c.76905C>G (TTN) ENSP00000340554.6:p.Val25635=
ENST00000342175.11:c.76905C>G (TTN) ENSP00000340554.6:p.Val25635=
ENST00000342992.10:c.95820C>G (TTN) ENSP00000343764.6:p.Val31940=
ENST00000342992.11:c.95820C>G (TTN) ENSP00000343764.6:p.Val31940=
ENST00000359218.10:c.76704C>G (TTN) ENSP00000352154.5:p.Val25568=
ENST00000359218.9:c.76704C>G (TTN) ENSP00000352154.5:p.Val25568=
ENST00000460472.6:c.76329C>G (TTN) ENSP00000434586.1:p.Val25443=
ENST00000591111.5:c.98601C>G (TTN) ENSP00000465570.1:p.Val32867=
ENST00000615779.4:c.98601C>G (TTN) ENSP00000483597.1:p.Val32867=
XM_011511729.1:c.102621C>G (TTN) XP_011510031.1:p.Val34207=
XM_011511730.1:c.76515C>G (TTN) XP_011510032.1:p.Val25505=
XM_011511731.1:c.76374C>G (TTN) XP_011510033.1:p.Val25458=
XM_017004819.1:c.102417C>G (TTN) XP_016860308.1:p.Val34139=
XM_017004820.1:c.97815C>G (TTN) XP_016860309.1:p.Val32605=
XM_017004821.1:c.97812C>G (TTN) XP_016860310.1:p.Val32604=
XM_017004822.1:c.94854C>G (TTN) XP_016860311.1:p.Val31618=
XM_017004823.1:c.76470C>G (TTN) XP_016860312.1:p.Val25490=
XM_024453094.1:c.97965C>G (TTN) XP_024308862.1:p.Val32655=
XM_024453095.1:c.97962C>G (TTN) XP_024308863.1:p.Val32654=
XM_024453096.1:c.97395C>G (TTN) XP_024308864.1:p.Val32465=
XM_024453097.1:c.94737C>G (TTN) XP_024308865.1:p.Val31579=
XM_024453098.1:c.94656C>G (TTN) XP_024308866.1:p.Val31552=
XM_024453099.1:c.76419C>G (TTN) XP_024308867.1:p.Val25473=
XM_024453100.1:c.66273C>G (TTN) XP_024308868.1:p.Val22091=