Canonical Allele Identifier: CA349645634
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630330A>G , CM000664.2:g.178630330A>G GRCh38
NC_000002.11:g.179495057A>G , CM000664.1:g.179495057A>G GRCh37
NC_000002.10:g.179203302A>G NCBI36
NG_011618.3:g.205473T>C , LRG_391:g.205473T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36488T>C ENSP00000343764.6:p.Leu12163Pro
ENST00000342175.11:c.17573T>C ENSP00000340554.6:p.Leu5858Pro
ENST00000359218.10:c.17372T>C ENSP00000352154.5:p.Leu5791Pro
ENST00000342175.10:c.17573T>C ENSP00000340554.6:p.Leu5858Pro
ENST00000342992.10:c.36488T>C ENSP00000343764.6:p.Leu12163Pro
ENST00000359218.9:c.17372T>C ENSP00000352154.5:p.Leu5791Pro
ENST00000460472.6:c.16997T>C ENSP00000434586.1:p.Leu5666Pro
ENST00000589042.5:c.44192T>C MANE Select ENSP00000467141.1:p.Leu14731Pro
ENST00000591111.5:c.39269T>C ENSP00000465570.1:p.Leu13090Pro
ENST00000615779.4:c.39269T>C ENSP00000483597.1:p.Leu13090Pro
NM_001256850.1:c.39269T>C NP_001243779.1:p.Leu13090Pro
NM_001267550.2:c.44192T>C MANE Select NP_001254479.2:p.Leu14731Pro
NM_003319.4:c.16997T>C NP_003310.4:p.Leu5666Pro
NM_133378.4:c.36488T>C NP_596869.4:p.Leu12163Pro
NM_133432.3:c.17372T>C NP_597676.3:p.Leu5791Pro
NM_133437.4:c.17573T>C NP_597681.4:p.Leu5858Pro
XM_011511729.1:c.43289T>C XP_011510031.1:p.Leu14430Pro
XM_011511730.1:c.17183T>C XP_011510032.1:p.Leu5728Pro
XM_011511731.1:c.17042T>C XP_011510033.1:p.Leu5681Pro
XM_017004819.1:c.43085T>C XP_016860308.1:p.Leu14362Pro
XM_017004820.1:c.38483T>C XP_016860309.1:p.Leu12828Pro
XM_017004821.1:c.38480T>C XP_016860310.1:p.Leu12827Pro
XM_017004822.1:c.35522T>C XP_016860311.1:p.Leu11841Pro
XM_017004823.1:c.17138T>C XP_016860312.1:p.Leu5713Pro
XM_024453094.1:c.38633T>C XP_024308862.1:p.Leu12878Pro
XM_024453095.1:c.38630T>C XP_024308863.1:p.Leu12877Pro
XM_024453096.1:c.38063T>C XP_024308864.1:p.Leu12688Pro
XM_024453097.1:c.35405T>C XP_024308865.1:p.Leu11802Pro
XM_024453098.1:c.35324T>C XP_024308866.1:p.Leu11775Pro
XM_024453099.1:c.17087T>C XP_024308867.1:p.Leu5696Pro
XM_024453100.1:c.6941T>C XP_024308868.1:p.Leu2314Pro