Canonical Allele Identifier: CA349436036

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584669C>A , CM000664.2:g.178584669C>A GRCh38
NC_000002.11:g.179449396C>A , CM000664.1:g.179449396C>A GRCh37
NC_000002.10:g.179157642C>A NCBI36
NG_011618.3:g.251134G>T , LRG_391:g.251134G>T
NG_051363.1:g.66843C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57268G>T (TTN) ENSP00000343764.6:p.Gly19090Cys
ENST00000342175.11:c.38353G>T (TTN) ENSP00000340554.6:p.Gly12785Cys
ENST00000359218.10:c.38152G>T (TTN) ENSP00000352154.5:p.Gly12718Cys
ENST00000342175.10:c.38353G>T (TTN) ENSP00000340554.6:p.Gly12785Cys
ENST00000342992.10:c.57268G>T (TTN) ENSP00000343764.6:p.Gly19090Cys
ENST00000359218.9:c.38152G>T (TTN) ENSP00000352154.5:p.Gly12718Cys
ENST00000460472.6:c.37777G>T (TTN) ENSP00000434586.1:p.Gly12593Cys
ENST00000589042.5:c.64972G>T (TTN) MANE Select ENSP00000467141.1:p.Gly21658Cys
ENST00000591111.5:c.60049G>T (TTN) ENSP00000465570.1:p.Gly20017Cys
ENST00000615779.4:c.60049G>T (TTN) ENSP00000483597.1:p.Gly20017Cys
NM_001256850.1:c.60049G>T (TTN) NP_001243779.1:p.Gly20017Cys
NM_001267550.2:c.64972G>T (TTN) MANE Select NP_001254479.2:p.Gly21658Cys
NM_003319.4:c.37777G>T (TTN) NP_003310.4:p.Gly12593Cys
NM_133378.4:c.57268G>T (TTN) NP_596869.4:p.Gly19090Cys
NM_133432.3:c.38152G>T (TTN) NP_597676.3:p.Gly12718Cys
NM_133437.4:c.38353G>T (TTN) NP_597681.4:p.Gly12785Cys
NR_038271.1:n.597-12927C>A (TTN-AS1)
NR_038272.1:n.2864C>A (TTN-AS1)
XM_011511729.1:c.64069G>T (TTN) XP_011510031.1:p.Gly21357Cys
XM_011511730.1:c.37963G>T (TTN) XP_011510032.1:p.Gly12655Cys
XM_011511731.1:c.37822G>T (TTN) XP_011510033.1:p.Gly12608Cys
XM_017004819.1:c.63865G>T (TTN) XP_016860308.1:p.Gly21289Cys
XM_017004820.1:c.59263G>T (TTN) XP_016860309.1:p.Gly19755Cys
XM_017004821.1:c.59260G>T (TTN) XP_016860310.1:p.Gly19754Cys
XM_017004822.1:c.56302G>T (TTN) XP_016860311.1:p.Gly18768Cys
XM_017004823.1:c.37918G>T (TTN) XP_016860312.1:p.Gly12640Cys
XM_024453094.1:c.59413G>T (TTN) XP_024308862.1:p.Gly19805Cys
XM_024453095.1:c.59410G>T (TTN) XP_024308863.1:p.Gly19804Cys
XM_024453096.1:c.58843G>T (TTN) XP_024308864.1:p.Gly19615Cys
XM_024453097.1:c.56185G>T (TTN) XP_024308865.1:p.Gly18729Cys
XM_024453098.1:c.56104G>T (TTN) XP_024308866.1:p.Gly18702Cys
XM_024453099.1:c.37867G>T (TTN) XP_024308867.1:p.Gly12623Cys
XM_024453100.1:c.27721G>T (TTN) XP_024308868.1:p.Gly9241Cys