Canonical Allele Identifier: CA1991978
Community Standard Title: NM_001267550.2(TTN):c.64047C>T (p.Gly21349=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178587164G>A , CM000664.2:g.178587164G>A GRCh38
NC_000002.11:g.179451891G>A , CM000664.1:g.179451891G>A GRCh37
NC_000002.10:g.179160137G>A NCBI36
NG_011618.3:g.248639C>T , LRG_391:g.248639C>T
NG_051363.1:g.69338G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64047C>T (TTN) MANE Select NP_001254479.2:p.Gly21349=
ENST00000589042.5:c.64047C>T (TTN) MANE Select ENSP00000467141.1:p.Gly21349=
NM_001256850.1:c.59124C>T (TTN) NP_001243779.1:p.Gly19708=
NM_003319.4:c.36852C>T (TTN) NP_003310.4:p.Gly12284=
NM_133378.4:c.56343C>T (TTN) NP_596869.4:p.Gly18781=
NM_133432.3:c.37227C>T (TTN) NP_597676.3:p.Gly12409=
NM_133437.4:c.37428C>T (TTN) NP_597681.4:p.Gly12476=
NR_038271.1:n.597-10432G>A (TTN-AS1)
NR_038272.1:n.3188+2171G>A (TTN-AS1)
ENST00000342175.10:c.37428C>T (TTN) ENSP00000340554.6:p.Gly12476=
ENST00000342175.11:c.37428C>T (TTN) ENSP00000340554.6:p.Gly12476=
ENST00000342992.10:c.56343C>T (TTN) ENSP00000343764.6:p.Gly18781=
ENST00000342992.11:c.56343C>T (TTN) ENSP00000343764.6:p.Gly18781=
ENST00000359218.10:c.37227C>T (TTN) ENSP00000352154.5:p.Gly12409=
ENST00000359218.9:c.37227C>T (TTN) ENSP00000352154.5:p.Gly12409=
ENST00000460472.6:c.36852C>T (TTN) ENSP00000434586.1:p.Gly12284=
ENST00000591111.5:c.59124C>T (TTN) ENSP00000465570.1:p.Gly19708=
ENST00000615779.4:c.59124C>T (TTN) ENSP00000483597.1:p.Gly19708=
XM_011511729.1:c.63144C>T (TTN) XP_011510031.1:p.Gly21048=
XM_011511730.1:c.37038C>T (TTN) XP_011510032.1:p.Gly12346=
XM_011511731.1:c.36897C>T (TTN) XP_011510033.1:p.Gly12299=
XM_017004819.1:c.62940C>T (TTN) XP_016860308.1:p.Gly20980=
XM_017004820.1:c.58338C>T (TTN) XP_016860309.1:p.Gly19446=
XM_017004821.1:c.58335C>T (TTN) XP_016860310.1:p.Gly19445=
XM_017004822.1:c.55377C>T (TTN) XP_016860311.1:p.Gly18459=
XM_017004823.1:c.36993C>T (TTN) XP_016860312.1:p.Gly12331=
XM_024453094.1:c.58488C>T (TTN) XP_024308862.1:p.Gly19496=
XM_024453095.1:c.58485C>T (TTN) XP_024308863.1:p.Gly19495=
XM_024453096.1:c.57918C>T (TTN) XP_024308864.1:p.Gly19306=
XM_024453097.1:c.55260C>T (TTN) XP_024308865.1:p.Gly18420=
XM_024453098.1:c.55179C>T (TTN) XP_024308866.1:p.Gly18393=
XM_024453099.1:c.36942C>T (TTN) XP_024308867.1:p.Gly12314=
XM_024453100.1:c.26796C>T (TTN) XP_024308868.1:p.Gly8932=