Canonical Allele Identifier: CA349417266

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534056A>C , CM000664.2:g.178534056A>C GRCh38
NC_000002.11:g.179398783A>C , CM000664.1:g.179398783A>C GRCh37
NC_000002.10:g.179107029A>C NCBI36
NG_011618.3:g.301747T>G , LRG_391:g.301747T>G
NG_051363.1:g.16230A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94855T>G (TTN) ENSP00000343764.6:p.Tyr31619Asp
ENST00000342175.11:c.75940T>G (TTN) ENSP00000340554.6:p.Tyr25314Asp
ENST00000359218.10:c.75739T>G (TTN) ENSP00000352154.5:p.Tyr25247Asp
ENST00000342175.10:c.75940T>G (TTN) ENSP00000340554.6:p.Tyr25314Asp
ENST00000342992.10:c.94855T>G (TTN) ENSP00000343764.6:p.Tyr31619Asp
ENST00000359218.9:c.75739T>G (TTN) ENSP00000352154.5:p.Tyr25247Asp
ENST00000460472.6:c.75364T>G (TTN) ENSP00000434586.1:p.Tyr25122Asp
ENST00000589042.5:c.102559T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr34187Asp
ENST00000591111.5:c.97636T>G (TTN) ENSP00000465570.1:p.Tyr32546Asp
ENST00000615779.4:c.97636T>G (TTN) ENSP00000483597.1:p.Tyr32546Asp
NM_001256850.1:c.97636T>G (TTN) NP_001243779.1:p.Tyr32546Asp
NM_001267550.2:c.102559T>G (TTN) MANE Select NP_001254479.2:p.Tyr34187Asp
NM_003319.4:c.75364T>G (TTN) NP_003310.4:p.Tyr25122Asp
NM_133378.4:c.94855T>G (TTN) NP_596869.4:p.Tyr31619Asp
NM_133432.3:c.75739T>G (TTN) NP_597676.3:p.Tyr25247Asp
NM_133437.4:c.75940T>G (TTN) NP_597681.4:p.Tyr25314Asp
NR_038271.1:n.446+10420A>C (TTN-AS1)
NR_038272.1:n.220-1676A>C (TTN-AS1)
XM_011511729.1:c.101656T>G (TTN) XP_011510031.1:p.Tyr33886Asp
XM_011511730.1:c.75550T>G (TTN) XP_011510032.1:p.Tyr25184Asp
XM_011511731.1:c.75409T>G (TTN) XP_011510033.1:p.Tyr25137Asp
XM_017004819.1:c.101452T>G (TTN) XP_016860308.1:p.Tyr33818Asp
XM_017004820.1:c.96850T>G (TTN) XP_016860309.1:p.Tyr32284Asp
XM_017004821.1:c.96847T>G (TTN) XP_016860310.1:p.Tyr32283Asp
XM_017004822.1:c.93889T>G (TTN) XP_016860311.1:p.Tyr31297Asp
XM_017004823.1:c.75505T>G (TTN) XP_016860312.1:p.Tyr25169Asp
XM_024453094.1:c.97000T>G (TTN) XP_024308862.1:p.Tyr32334Asp
XM_024453095.1:c.96997T>G (TTN) XP_024308863.1:p.Tyr32333Asp
XM_024453096.1:c.96430T>G (TTN) XP_024308864.1:p.Tyr32144Asp
XM_024453097.1:c.93772T>G (TTN) XP_024308865.1:p.Tyr31258Asp
XM_024453098.1:c.93691T>G (TTN) XP_024308866.1:p.Tyr31231Asp
XM_024453099.1:c.75454T>G (TTN) XP_024308867.1:p.Tyr25152Asp
XM_024453100.1:c.65308T>G (TTN) XP_024308868.1:p.Tyr21770Asp