Canonical Allele Identifier: CA349436038

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57268G>C (TTN) ENSP00000343764.6:p.Gly19090Arg
ENST00000342175.11:c.38353G>C (TTN) ENSP00000340554.6:p.Gly12785Arg
ENST00000359218.10:c.38152G>C (TTN) ENSP00000352154.5:p.Gly12718Arg
ENST00000342175.10:c.38353G>C (TTN) ENSP00000340554.6:p.Gly12785Arg
ENST00000342992.10:c.57268G>C (TTN) ENSP00000343764.6:p.Gly19090Arg
ENST00000359218.9:c.38152G>C (TTN) ENSP00000352154.5:p.Gly12718Arg
ENST00000460472.6:c.37777G>C (TTN) ENSP00000434586.1:p.Gly12593Arg
ENST00000589042.5:c.64972G>C (TTN) MANE Select ENSP00000467141.1:p.Gly21658Arg
ENST00000591111.5:c.60049G>C (TTN) ENSP00000465570.1:p.Gly20017Arg
ENST00000615779.4:c.60049G>C (TTN) ENSP00000483597.1:p.Gly20017Arg
NM_001256850.1:c.60049G>C (TTN) NP_001243779.1:p.Gly20017Arg
NM_001267550.2:c.64972G>C (TTN) MANE Select NP_001254479.2:p.Gly21658Arg
NM_003319.4:c.37777G>C (TTN) NP_003310.4:p.Gly12593Arg
NM_133378.4:c.57268G>C (TTN) NP_596869.4:p.Gly19090Arg
NM_133432.3:c.38152G>C (TTN) NP_597676.3:p.Gly12718Arg
NM_133437.4:c.38353G>C (TTN) NP_597681.4:p.Gly12785Arg
NR_038271.1:n.597-12927C>G (TTN-AS1)
NR_038272.1:n.2864C>G (TTN-AS1)
XM_011511729.1:c.64069G>C (TTN) XP_011510031.1:p.Gly21357Arg
XM_011511730.1:c.37963G>C (TTN) XP_011510032.1:p.Gly12655Arg
XM_011511731.1:c.37822G>C (TTN) XP_011510033.1:p.Gly12608Arg
XM_017004819.1:c.63865G>C (TTN) XP_016860308.1:p.Gly21289Arg
XM_017004820.1:c.59263G>C (TTN) XP_016860309.1:p.Gly19755Arg
XM_017004821.1:c.59260G>C (TTN) XP_016860310.1:p.Gly19754Arg
XM_017004822.1:c.56302G>C (TTN) XP_016860311.1:p.Gly18768Arg
XM_017004823.1:c.37918G>C (TTN) XP_016860312.1:p.Gly12640Arg
XM_024453094.1:c.59413G>C (TTN) XP_024308862.1:p.Gly19805Arg
XM_024453095.1:c.59410G>C (TTN) XP_024308863.1:p.Gly19804Arg
XM_024453096.1:c.58843G>C (TTN) XP_024308864.1:p.Gly19615Arg
XM_024453097.1:c.56185G>C (TTN) XP_024308865.1:p.Gly18729Arg
XM_024453098.1:c.56104G>C (TTN) XP_024308866.1:p.Gly18702Arg
XM_024453099.1:c.37867G>C (TTN) XP_024308867.1:p.Gly12623Arg
XM_024453100.1:c.27721G>C (TTN) XP_024308868.1:p.Gly9241Arg