Canonical Allele Identifier: CA349645544
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2438112
ClinVar RCV Id: RCV003137277

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630315C>G , CM000664.2:g.178630315C>G GRCh38
NC_000002.11:g.179495042C>G , CM000664.1:g.179495042C>G GRCh37
NC_000002.10:g.179203287C>G NCBI36
NG_011618.3:g.205488G>C , LRG_391:g.205488G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.36503G>C ENSP00000343764.6:p.Cys12168Ser
ENST00000342175.11:c.17588G>C ENSP00000340554.6:p.Cys5863Ser
ENST00000359218.10:c.17387G>C ENSP00000352154.5:p.Cys5796Ser
ENST00000342175.10:c.17588G>C ENSP00000340554.6:p.Cys5863Ser
ENST00000342992.10:c.36503G>C ENSP00000343764.6:p.Cys12168Ser
ENST00000359218.9:c.17387G>C ENSP00000352154.5:p.Cys5796Ser
ENST00000460472.6:c.17012G>C ENSP00000434586.1:p.Cys5671Ser
ENST00000589042.5:c.44207G>C MANE Select ENSP00000467141.1:p.Cys14736Ser
ENST00000591111.5:c.39284G>C ENSP00000465570.1:p.Cys13095Ser
ENST00000615779.4:c.39284G>C ENSP00000483597.1:p.Cys13095Ser
NM_001256850.1:c.39284G>C NP_001243779.1:p.Cys13095Ser
NM_001267550.2:c.44207G>C MANE Select NP_001254479.2:p.Cys14736Ser
NM_003319.4:c.17012G>C NP_003310.4:p.Cys5671Ser
NM_133378.4:c.36503G>C NP_596869.4:p.Cys12168Ser
NM_133432.3:c.17387G>C NP_597676.3:p.Cys5796Ser
NM_133437.4:c.17588G>C NP_597681.4:p.Cys5863Ser
XM_011511729.1:c.43304G>C XP_011510031.1:p.Cys14435Ser
XM_011511730.1:c.17198G>C XP_011510032.1:p.Cys5733Ser
XM_011511731.1:c.17057G>C XP_011510033.1:p.Cys5686Ser
XM_017004819.1:c.43100G>C XP_016860308.1:p.Cys14367Ser
XM_017004820.1:c.38498G>C XP_016860309.1:p.Cys12833Ser
XM_017004821.1:c.38495G>C XP_016860310.1:p.Cys12832Ser
XM_017004822.1:c.35537G>C XP_016860311.1:p.Cys11846Ser
XM_017004823.1:c.17153G>C XP_016860312.1:p.Cys5718Ser
XM_024453094.1:c.38648G>C XP_024308862.1:p.Cys12883Ser
XM_024453095.1:c.38645G>C XP_024308863.1:p.Cys12882Ser
XM_024453096.1:c.38078G>C XP_024308864.1:p.Cys12693Ser
XM_024453097.1:c.35420G>C XP_024308865.1:p.Cys11807Ser
XM_024453098.1:c.35339G>C XP_024308866.1:p.Cys11780Ser
XM_024453099.1:c.17102G>C XP_024308867.1:p.Cys5701Ser
XM_024453100.1:c.6956G>C XP_024308868.1:p.Cys2319Ser