Canonical Allele Identifier: CA349417038

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533954A>G , CM000664.2:g.178533954A>G GRCh38
NC_000002.11:g.179398681A>G , CM000664.1:g.179398681A>G GRCh37
NC_000002.10:g.179106927A>G NCBI36
NG_011618.3:g.301849T>C , LRG_391:g.301849T>C
NG_051363.1:g.16128A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94957T>C (TTN) ENSP00000343764.6:p.Tyr31653His
ENST00000342175.11:c.76042T>C (TTN) ENSP00000340554.6:p.Tyr25348His
ENST00000359218.10:c.75841T>C (TTN) ENSP00000352154.5:p.Tyr25281His
ENST00000342175.10:c.76042T>C (TTN) ENSP00000340554.6:p.Tyr25348His
ENST00000342992.10:c.94957T>C (TTN) ENSP00000343764.6:p.Tyr31653His
ENST00000359218.9:c.75841T>C (TTN) ENSP00000352154.5:p.Tyr25281His
ENST00000460472.6:c.75466T>C (TTN) ENSP00000434586.1:p.Tyr25156His
ENST00000589042.5:c.102661T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr34221His
ENST00000591111.5:c.97738T>C (TTN) ENSP00000465570.1:p.Tyr32580His
ENST00000615779.4:c.97738T>C (TTN) ENSP00000483597.1:p.Tyr32580His
NM_001256850.1:c.97738T>C (TTN) NP_001243779.1:p.Tyr32580His
NM_001267550.2:c.102661T>C (TTN) MANE Select NP_001254479.2:p.Tyr34221His
NM_003319.4:c.75466T>C (TTN) NP_003310.4:p.Tyr25156His
NM_133378.4:c.94957T>C (TTN) NP_596869.4:p.Tyr31653His
NM_133432.3:c.75841T>C (TTN) NP_597676.3:p.Tyr25281His
NM_133437.4:c.76042T>C (TTN) NP_597681.4:p.Tyr25348His
NR_038271.1:n.446+10318A>G (TTN-AS1)
NR_038272.1:n.220-1778A>G (TTN-AS1)
XM_011511729.1:c.101758T>C (TTN) XP_011510031.1:p.Tyr33920His
XM_011511730.1:c.75652T>C (TTN) XP_011510032.1:p.Tyr25218His
XM_011511731.1:c.75511T>C (TTN) XP_011510033.1:p.Tyr25171His
XM_017004819.1:c.101554T>C (TTN) XP_016860308.1:p.Tyr33852His
XM_017004820.1:c.96952T>C (TTN) XP_016860309.1:p.Tyr32318His
XM_017004821.1:c.96949T>C (TTN) XP_016860310.1:p.Tyr32317His
XM_017004822.1:c.93991T>C (TTN) XP_016860311.1:p.Tyr31331His
XM_017004823.1:c.75607T>C (TTN) XP_016860312.1:p.Tyr25203His
XM_024453094.1:c.97102T>C (TTN) XP_024308862.1:p.Tyr32368His
XM_024453095.1:c.97099T>C (TTN) XP_024308863.1:p.Tyr32367His
XM_024453096.1:c.96532T>C (TTN) XP_024308864.1:p.Tyr32178His
XM_024453097.1:c.93874T>C (TTN) XP_024308865.1:p.Tyr31292His
XM_024453098.1:c.93793T>C (TTN) XP_024308866.1:p.Tyr31265His
XM_024453099.1:c.75556T>C (TTN) XP_024308867.1:p.Tyr25186His
XM_024453100.1:c.65410T>C (TTN) XP_024308868.1:p.Tyr21804His