Canonical Allele Identifier: CA349400175

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527595G>T , CM000664.2:g.178527595G>T GRCh38
NC_000002.11:g.179392322G>T , CM000664.1:g.179392322G>T GRCh37
NC_000002.10:g.179100568G>T NCBI36
NG_011618.3:g.308208C>A , LRG_391:g.308208C>A
NG_051363.1:g.9769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99827C>A (TTN) ENSP00000343764.6:p.Thr33276Asn
ENST00000342175.11:c.80912C>A (TTN) ENSP00000340554.6:p.Thr26971Asn
ENST00000359218.10:c.80711C>A (TTN) ENSP00000352154.5:p.Thr26904Asn
ENST00000342175.10:c.80912C>A (TTN) ENSP00000340554.6:p.Thr26971Asn
ENST00000342992.10:c.99827C>A (TTN) ENSP00000343764.6:p.Thr33276Asn
ENST00000359218.9:c.80711C>A (TTN) ENSP00000352154.5:p.Thr26904Asn
ENST00000460472.6:c.80336C>A (TTN) ENSP00000434586.1:p.Thr26779Asn
ENST00000589042.5:c.107531C>A (TTN) MANE Select ENSP00000467141.1:p.Thr35844Asn
ENST00000591111.5:c.102608C>A (TTN) ENSP00000465570.1:p.Thr34203Asn
ENST00000615779.4:c.102608C>A (TTN) ENSP00000483597.1:p.Thr34203Asn
NM_001256850.1:c.102608C>A (TTN) NP_001243779.1:p.Thr34203Asn
NM_001267550.2:c.107531C>A (TTN) MANE Select NP_001254479.2:p.Thr35844Asn
NM_003319.4:c.80336C>A (TTN) NP_003310.4:p.Thr26779Asn
NM_133378.4:c.99827C>A (TTN) NP_596869.4:p.Thr33276Asn
NM_133432.3:c.80711C>A (TTN) NP_597676.3:p.Thr26904Asn
NM_133437.4:c.80912C>A (TTN) NP_597681.4:p.Thr26971Asn
NR_038271.1:n.446+3959G>T (TTN-AS1)
NR_038272.1:n.219+3959G>T (TTN-AS1)
XM_011511729.1:c.106628C>A (TTN) XP_011510031.1:p.Thr35543Asn
XM_011511730.1:c.80522C>A (TTN) XP_011510032.1:p.Thr26841Asn
XM_011511731.1:c.80381C>A (TTN) XP_011510033.1:p.Thr26794Asn
XM_017004819.1:c.106424C>A (TTN) XP_016860308.1:p.Thr35475Asn
XM_017004820.1:c.101822C>A (TTN) XP_016860309.1:p.Thr33941Asn
XM_017004821.1:c.101819C>A (TTN) XP_016860310.1:p.Thr33940Asn
XM_017004822.1:c.98861C>A (TTN) XP_016860311.1:p.Thr32954Asn
XM_017004823.1:c.80477C>A (TTN) XP_016860312.1:p.Thr26826Asn
XM_024453094.1:c.101972C>A (TTN) XP_024308862.1:p.Thr33991Asn
XM_024453095.1:c.101969C>A (TTN) XP_024308863.1:p.Thr33990Asn
XM_024453096.1:c.101402C>A (TTN) XP_024308864.1:p.Thr33801Asn
XM_024453097.1:c.98744C>A (TTN) XP_024308865.1:p.Thr32915Asn
XM_024453098.1:c.98663C>A (TTN) XP_024308866.1:p.Thr32888Asn
XM_024453099.1:c.80426C>A (TTN) XP_024308867.1:p.Thr26809Asn
XM_024453100.1:c.70280C>A (TTN) XP_024308868.1:p.Thr23427Asn