Canonical Allele Identifier: CA349427873

Linked Data

dbSNP Id: rs1180220176

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537609A>G , CM000664.2:g.178537609A>G GRCh38
NC_000002.11:g.179402336A>G , CM000664.1:g.179402336A>G GRCh37
NC_000002.10:g.179110582A>G NCBI36
NG_011618.3:g.298194T>C , LRG_391:g.298194T>C
NG_051363.1:g.19783A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91894T>C (TTN) ENSP00000343764.6:p.Tyr30632His
ENST00000342175.11:c.72979T>C (TTN) ENSP00000340554.6:p.Tyr24327His
ENST00000359218.10:c.72778T>C (TTN) ENSP00000352154.5:p.Tyr24260His
ENST00000342175.10:c.72979T>C (TTN) ENSP00000340554.6:p.Tyr24327His
ENST00000342992.10:c.91894T>C (TTN) ENSP00000343764.6:p.Tyr30632His
ENST00000359218.9:c.72778T>C (TTN) ENSP00000352154.5:p.Tyr24260His
ENST00000460472.6:c.72403T>C (TTN) ENSP00000434586.1:p.Tyr24135His
ENST00000589042.5:c.99598T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr33200His
ENST00000591111.5:c.94675T>C (TTN) ENSP00000465570.1:p.Tyr31559His
ENST00000615779.4:c.94675T>C (TTN) ENSP00000483597.1:p.Tyr31559His
NM_001256850.1:c.94675T>C (TTN) NP_001243779.1:p.Tyr31559His
NM_001267550.2:c.99598T>C (TTN) MANE Select NP_001254479.2:p.Tyr33200His
NM_003319.4:c.72403T>C (TTN) NP_003310.4:p.Tyr24135His
NM_133378.4:c.91894T>C (TTN) NP_596869.4:p.Tyr30632His
NM_133432.3:c.72778T>C (TTN) NP_597676.3:p.Tyr24260His
NM_133437.4:c.72979T>C (TTN) NP_597681.4:p.Tyr24327His
NR_038271.1:n.446+13973A>G (TTN-AS1)
NR_038272.1:n.565A>G (TTN-AS1)
XM_011511729.1:c.98695T>C (TTN) XP_011510031.1:p.Tyr32899His
XM_011511730.1:c.72589T>C (TTN) XP_011510032.1:p.Tyr24197His
XM_011511731.1:c.72448T>C (TTN) XP_011510033.1:p.Tyr24150His
XM_017004819.1:c.98491T>C (TTN) XP_016860308.1:p.Tyr32831His
XM_017004820.1:c.93889T>C (TTN) XP_016860309.1:p.Tyr31297His
XM_017004821.1:c.93886T>C (TTN) XP_016860310.1:p.Tyr31296His
XM_017004822.1:c.90928T>C (TTN) XP_016860311.1:p.Tyr30310His
XM_017004823.1:c.72544T>C (TTN) XP_016860312.1:p.Tyr24182His
XM_024453094.1:c.94039T>C (TTN) XP_024308862.1:p.Tyr31347His
XM_024453095.1:c.94036T>C (TTN) XP_024308863.1:p.Tyr31346His
XM_024453096.1:c.93469T>C (TTN) XP_024308864.1:p.Tyr31157His
XM_024453097.1:c.90811T>C (TTN) XP_024308865.1:p.Tyr30271His
XM_024453098.1:c.90730T>C (TTN) XP_024308866.1:p.Tyr30244His
XM_024453099.1:c.72493T>C (TTN) XP_024308867.1:p.Tyr24165His
XM_024453100.1:c.62347T>C (TTN) XP_024308868.1:p.Tyr20783His