Canonical Allele Identifier: CA349646976
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631162T>A , CM000664.2:g.178631162T>A GRCh38
NC_000002.11:g.179495889T>A , CM000664.1:g.179495889T>A GRCh37
NC_000002.10:g.179204134T>A NCBI36
NG_011618.3:g.204641A>T , LRG_391:g.204641A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36182A>T ENSP00000343764.6:p.Lys12061Ile
ENST00000342175.11:c.17267A>T ENSP00000340554.6:p.Lys5756Ile
ENST00000359218.10:c.17066A>T ENSP00000352154.5:p.Lys5689Ile
ENST00000342175.10:c.17267A>T ENSP00000340554.6:p.Lys5756Ile
ENST00000342992.10:c.36182A>T ENSP00000343764.6:p.Lys12061Ile
ENST00000359218.9:c.17066A>T ENSP00000352154.5:p.Lys5689Ile
ENST00000460472.6:c.16691A>T ENSP00000434586.1:p.Lys5564Ile
ENST00000589042.5:c.43886A>T MANE Select ENSP00000467141.1:p.Lys14629Ile
ENST00000591111.5:c.38963A>T ENSP00000465570.1:p.Lys12988Ile
ENST00000615779.4:c.38963A>T ENSP00000483597.1:p.Lys12988Ile
NM_001256850.1:c.38963A>T NP_001243779.1:p.Lys12988Ile
NM_001267550.2:c.43886A>T MANE Select NP_001254479.2:p.Lys14629Ile
NM_003319.4:c.16691A>T NP_003310.4:p.Lys5564Ile
NM_133378.4:c.36182A>T NP_596869.4:p.Lys12061Ile
NM_133432.3:c.17066A>T NP_597676.3:p.Lys5689Ile
NM_133437.4:c.17267A>T NP_597681.4:p.Lys5756Ile
XM_011511729.1:c.42983A>T XP_011510031.1:p.Lys14328Ile
XM_011511730.1:c.16877A>T XP_011510032.1:p.Lys5626Ile
XM_011511731.1:c.16736A>T XP_011510033.1:p.Lys5579Ile
XM_017004819.1:c.42779A>T XP_016860308.1:p.Lys14260Ile
XM_017004820.1:c.38177A>T XP_016860309.1:p.Lys12726Ile
XM_017004821.1:c.38174A>T XP_016860310.1:p.Lys12725Ile
XM_017004822.1:c.35216A>T XP_016860311.1:p.Lys11739Ile
XM_017004823.1:c.16832A>T XP_016860312.1:p.Lys5611Ile
XM_024453094.1:c.38327A>T XP_024308862.1:p.Lys12776Ile
XM_024453095.1:c.38324A>T XP_024308863.1:p.Lys12775Ile
XM_024453096.1:c.37757A>T XP_024308864.1:p.Lys12586Ile
XM_024453097.1:c.35099A>T XP_024308865.1:p.Lys11700Ile
XM_024453098.1:c.35018A>T XP_024308866.1:p.Lys11673Ile
XM_024453099.1:c.16781A>T XP_024308867.1:p.Lys5594Ile
XM_024453100.1:c.6635A>T XP_024308868.1:p.Lys2212Ile