Canonical Allele Identifier: CA60954123
Community Standard Title: NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531474C>T , CM000664.2:g.178531474C>T GRCh38
NC_000002.11:g.179396201C>T , CM000664.1:g.179396201C>T GRCh37
NC_000002.10:g.179104447C>T NCBI36
NG_011618.3:g.304329G>A , LRG_391:g.304329G>A
NG_051363.1:g.13648C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105141G>A (TTN) MANE Select NP_001254479.2:p.Glu35047=
ENST00000589042.5:c.105141G>A (TTN) MANE Select ENSP00000467141.1:p.Glu35047=
NM_001256850.1:c.100218G>A (TTN) NP_001243779.1:p.Glu33406=
NM_003319.4:c.77946G>A (TTN) NP_003310.4:p.Glu25982=
NM_133378.4:c.97437G>A (TTN) NP_596869.4:p.Glu32479=
NM_133432.3:c.78321G>A (TTN) NP_597676.3:p.Glu26107=
NM_133437.4:c.78522G>A (TTN) NP_597681.4:p.Glu26174=
NR_038271.1:n.446+7838C>T (TTN-AS1)
NR_038272.1:n.220-4258C>T (TTN-AS1)
ENST00000342175.10:c.78522G>A (TTN) ENSP00000340554.6:p.Glu26174=
ENST00000342175.11:c.78522G>A (TTN) ENSP00000340554.6:p.Glu26174=
ENST00000342992.10:c.97437G>A (TTN) ENSP00000343764.6:p.Glu32479=
ENST00000342992.11:c.97437G>A (TTN) ENSP00000343764.6:p.Glu32479=
ENST00000359218.10:c.78321G>A (TTN) ENSP00000352154.5:p.Glu26107=
ENST00000359218.9:c.78321G>A (TTN) ENSP00000352154.5:p.Glu26107=
ENST00000460472.6:c.77946G>A (TTN) ENSP00000434586.1:p.Glu25982=
ENST00000591111.5:c.100218G>A (TTN) ENSP00000465570.1:p.Glu33406=
ENST00000615779.4:c.100218G>A (TTN) ENSP00000483597.1:p.Glu33406=
XM_011511729.1:c.104238G>A (TTN) XP_011510031.1:p.Glu34746=
XM_011511730.1:c.78132G>A (TTN) XP_011510032.1:p.Glu26044=
XM_011511731.1:c.77991G>A (TTN) XP_011510033.1:p.Glu25997=
XM_017004819.1:c.104034G>A (TTN) XP_016860308.1:p.Glu34678=
XM_017004820.1:c.99432G>A (TTN) XP_016860309.1:p.Glu33144=
XM_017004821.1:c.99429G>A (TTN) XP_016860310.1:p.Glu33143=
XM_017004822.1:c.96471G>A (TTN) XP_016860311.1:p.Glu32157=
XM_017004823.1:c.78087G>A (TTN) XP_016860312.1:p.Glu26029=
XM_024453094.1:c.99582G>A (TTN) XP_024308862.1:p.Glu33194=
XM_024453095.1:c.99579G>A (TTN) XP_024308863.1:p.Glu33193=
XM_024453096.1:c.99012G>A (TTN) XP_024308864.1:p.Glu33004=
XM_024453097.1:c.96354G>A (TTN) XP_024308865.1:p.Glu32118=
XM_024453098.1:c.96273G>A (TTN) XP_024308866.1:p.Glu32091=
XM_024453099.1:c.78036G>A (TTN) XP_024308867.1:p.Glu26012=
XM_024453100.1:c.67890G>A (TTN) XP_024308868.1:p.Glu22630=