Canonical Allele Identifier: CA349506636
Community Standard Title: NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593976G>A , CM000664.2:g.178593976G>A GRCh38
NC_000002.11:g.179458703G>A , CM000664.1:g.179458703G>A GRCh37
NC_000002.10:g.179166949G>A NCBI36
NG_011618.3:g.241827C>T , LRG_391:g.241827C>T
NG_051363.1:g.76150G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.58417C>T (TTN) MANE Select NP_001254479.2:p.Gln19473Ter
ENST00000589042.5:c.58417C>T (TTN) MANE Select ENSP00000467141.1:p.Gln19473Ter
NM_001256850.1:c.53494C>T (TTN) NP_001243779.1:p.Gln17832Ter
NM_003319.4:c.31222C>T (TTN) NP_003310.4:p.Gln10408Ter
NM_133378.4:c.50713C>T (TTN) NP_596869.4:p.Gln16905Ter
NM_133432.3:c.31597C>T (TTN) NP_597676.3:p.Gln10533Ter
NM_133437.4:c.31798C>T (TTN) NP_597681.4:p.Gln10600Ter
NR_038271.1:n.597-3620G>A (TTN-AS1)
NR_038272.1:n.3364+2662G>A (TTN-AS1)
ENST00000342175.10:c.31798C>T (TTN) ENSP00000340554.6:p.Gln10600Ter
ENST00000342175.11:c.31798C>T (TTN) ENSP00000340554.6:p.Gln10600Ter
ENST00000342992.10:c.50713C>T (TTN) ENSP00000343764.6:p.Gln16905Ter
ENST00000342992.11:c.50713C>T (TTN) ENSP00000343764.6:p.Gln16905Ter
ENST00000359218.10:c.31597C>T (TTN) ENSP00000352154.5:p.Gln10533Ter
ENST00000359218.9:c.31597C>T (TTN) ENSP00000352154.5:p.Gln10533Ter
ENST00000460472.6:c.31222C>T (TTN) ENSP00000434586.1:p.Gln10408Ter
ENST00000591111.5:c.53494C>T (TTN) ENSP00000465570.1:p.Gln17832Ter
ENST00000615779.4:c.53494C>T (TTN) ENSP00000483597.1:p.Gln17832Ter
XM_011511729.1:c.57514C>T (TTN) XP_011510031.1:p.Gln19172Ter
XM_011511730.1:c.31408C>T (TTN) XP_011510032.1:p.Gln10470Ter
XM_011511731.1:c.31267C>T (TTN) XP_011510033.1:p.Gln10423Ter
XM_017004819.1:c.57310C>T (TTN) XP_016860308.1:p.Gln19104Ter
XM_017004820.1:c.52708C>T (TTN) XP_016860309.1:p.Gln17570Ter
XM_017004821.1:c.52705C>T (TTN) XP_016860310.1:p.Gln17569Ter
XM_017004822.1:c.49747C>T (TTN) XP_016860311.1:p.Gln16583Ter
XM_017004823.1:c.31363C>T (TTN) XP_016860312.1:p.Gln10455Ter
XM_024453094.1:c.52858C>T (TTN) XP_024308862.1:p.Gln17620Ter
XM_024453095.1:c.52855C>T (TTN) XP_024308863.1:p.Gln17619Ter
XM_024453096.1:c.52288C>T (TTN) XP_024308864.1:p.Gln17430Ter
XM_024453097.1:c.49630C>T (TTN) XP_024308865.1:p.Gln16544Ter
XM_024453098.1:c.49549C>T (TTN) XP_024308866.1:p.Gln16517Ter
XM_024453099.1:c.31312C>T (TTN) XP_024308867.1:p.Gln10438Ter
XM_024453100.1:c.21166C>T (TTN) XP_024308868.1:p.Gln7056Ter