Canonical Allele Identifier: CA349646950
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631157C>A , CM000664.2:g.178631157C>A GRCh38
NC_000002.11:g.179495884C>A , CM000664.1:g.179495884C>A GRCh37
NC_000002.10:g.179204129C>A NCBI36
NG_011618.3:g.204646G>T , LRG_391:g.204646G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36187G>T ENSP00000343764.6:p.Ala12063Ser
ENST00000342175.11:c.17272G>T ENSP00000340554.6:p.Ala5758Ser
ENST00000359218.10:c.17071G>T ENSP00000352154.5:p.Ala5691Ser
ENST00000342175.10:c.17272G>T ENSP00000340554.6:p.Ala5758Ser
ENST00000342992.10:c.36187G>T ENSP00000343764.6:p.Ala12063Ser
ENST00000359218.9:c.17071G>T ENSP00000352154.5:p.Ala5691Ser
ENST00000460472.6:c.16696G>T ENSP00000434586.1:p.Ala5566Ser
ENST00000589042.5:c.43891G>T MANE Select ENSP00000467141.1:p.Ala14631Ser
ENST00000591111.5:c.38968G>T ENSP00000465570.1:p.Ala12990Ser
ENST00000615779.4:c.38968G>T ENSP00000483597.1:p.Ala12990Ser
NM_001256850.1:c.38968G>T NP_001243779.1:p.Ala12990Ser
NM_001267550.2:c.43891G>T MANE Select NP_001254479.2:p.Ala14631Ser
NM_003319.4:c.16696G>T NP_003310.4:p.Ala5566Ser
NM_133378.4:c.36187G>T NP_596869.4:p.Ala12063Ser
NM_133432.3:c.17071G>T NP_597676.3:p.Ala5691Ser
NM_133437.4:c.17272G>T NP_597681.4:p.Ala5758Ser
XM_011511729.1:c.42988G>T XP_011510031.1:p.Ala14330Ser
XM_011511730.1:c.16882G>T XP_011510032.1:p.Ala5628Ser
XM_011511731.1:c.16741G>T XP_011510033.1:p.Ala5581Ser
XM_017004819.1:c.42784G>T XP_016860308.1:p.Ala14262Ser
XM_017004820.1:c.38182G>T XP_016860309.1:p.Ala12728Ser
XM_017004821.1:c.38179G>T XP_016860310.1:p.Ala12727Ser
XM_017004822.1:c.35221G>T XP_016860311.1:p.Ala11741Ser
XM_017004823.1:c.16837G>T XP_016860312.1:p.Ala5613Ser
XM_024453094.1:c.38332G>T XP_024308862.1:p.Ala12778Ser
XM_024453095.1:c.38329G>T XP_024308863.1:p.Ala12777Ser
XM_024453096.1:c.37762G>T XP_024308864.1:p.Ala12588Ser
XM_024453097.1:c.35104G>T XP_024308865.1:p.Ala11702Ser
XM_024453098.1:c.35023G>T XP_024308866.1:p.Ala11675Ser
XM_024453099.1:c.16786G>T XP_024308867.1:p.Ala5596Ser
XM_024453100.1:c.6640G>T XP_024308868.1:p.Ala2214Ser