Canonical Allele Identifier: CA349417268

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94855T>A (TTN) ENSP00000343764.6:p.Tyr31619Asn
ENST00000342175.11:c.75940T>A (TTN) ENSP00000340554.6:p.Tyr25314Asn
ENST00000359218.10:c.75739T>A (TTN) ENSP00000352154.5:p.Tyr25247Asn
ENST00000342175.10:c.75940T>A (TTN) ENSP00000340554.6:p.Tyr25314Asn
ENST00000342992.10:c.94855T>A (TTN) ENSP00000343764.6:p.Tyr31619Asn
ENST00000359218.9:c.75739T>A (TTN) ENSP00000352154.5:p.Tyr25247Asn
ENST00000460472.6:c.75364T>A (TTN) ENSP00000434586.1:p.Tyr25122Asn
ENST00000589042.5:c.102559T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr34187Asn
ENST00000591111.5:c.97636T>A (TTN) ENSP00000465570.1:p.Tyr32546Asn
ENST00000615779.4:c.97636T>A (TTN) ENSP00000483597.1:p.Tyr32546Asn
NM_001256850.1:c.97636T>A (TTN) NP_001243779.1:p.Tyr32546Asn
NM_001267550.2:c.102559T>A (TTN) MANE Select NP_001254479.2:p.Tyr34187Asn
NM_003319.4:c.75364T>A (TTN) NP_003310.4:p.Tyr25122Asn
NM_133378.4:c.94855T>A (TTN) NP_596869.4:p.Tyr31619Asn
NM_133432.3:c.75739T>A (TTN) NP_597676.3:p.Tyr25247Asn
NM_133437.4:c.75940T>A (TTN) NP_597681.4:p.Tyr25314Asn
NR_038271.1:n.446+10420A>T (TTN-AS1)
NR_038272.1:n.220-1676A>T (TTN-AS1)
XM_011511729.1:c.101656T>A (TTN) XP_011510031.1:p.Tyr33886Asn
XM_011511730.1:c.75550T>A (TTN) XP_011510032.1:p.Tyr25184Asn
XM_011511731.1:c.75409T>A (TTN) XP_011510033.1:p.Tyr25137Asn
XM_017004819.1:c.101452T>A (TTN) XP_016860308.1:p.Tyr33818Asn
XM_017004820.1:c.96850T>A (TTN) XP_016860309.1:p.Tyr32284Asn
XM_017004821.1:c.96847T>A (TTN) XP_016860310.1:p.Tyr32283Asn
XM_017004822.1:c.93889T>A (TTN) XP_016860311.1:p.Tyr31297Asn
XM_017004823.1:c.75505T>A (TTN) XP_016860312.1:p.Tyr25169Asn
XM_024453094.1:c.97000T>A (TTN) XP_024308862.1:p.Tyr32334Asn
XM_024453095.1:c.96997T>A (TTN) XP_024308863.1:p.Tyr32333Asn
XM_024453096.1:c.96430T>A (TTN) XP_024308864.1:p.Tyr32144Asn
XM_024453097.1:c.93772T>A (TTN) XP_024308865.1:p.Tyr31258Asn
XM_024453098.1:c.93691T>A (TTN) XP_024308866.1:p.Tyr31231Asn
XM_024453099.1:c.75454T>A (TTN) XP_024308867.1:p.Tyr25152Asn
XM_024453100.1:c.65308T>A (TTN) XP_024308868.1:p.Tyr21770Asn