Canonical Allele Identifier: CA349456347

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544343A>C , CM000664.2:g.178544343A>C GRCh38
NC_000002.11:g.179409070A>C , CM000664.1:g.179409070A>C GRCh37
NC_000002.10:g.179117316A>C NCBI36
NG_011618.3:g.291460T>G , LRG_391:g.291460T>G
NG_051363.1:g.26517A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88182T>G (TTN) ENSP00000343764.6:p.Asn29394Lys
ENST00000342175.11:c.69267T>G (TTN) ENSP00000340554.6:p.Asn23089Lys
ENST00000359218.10:c.69066T>G (TTN) ENSP00000352154.5:p.Asn23022Lys
ENST00000342175.10:c.69267T>G (TTN) ENSP00000340554.6:p.Asn23089Lys
ENST00000342992.10:c.88182T>G (TTN) ENSP00000343764.6:p.Asn29394Lys
ENST00000359218.9:c.69066T>G (TTN) ENSP00000352154.5:p.Asn23022Lys
ENST00000460472.6:c.68691T>G (TTN) ENSP00000434586.1:p.Asn22897Lys
ENST00000589042.5:c.95886T>G (TTN) MANE Select ENSP00000467141.1:p.Asn31962Lys
ENST00000591111.5:c.90963T>G (TTN) ENSP00000465570.1:p.Asn30321Lys
ENST00000615779.4:c.90963T>G (TTN) ENSP00000483597.1:p.Asn30321Lys
NM_001256850.1:c.90963T>G (TTN) NP_001243779.1:p.Asn30321Lys
NM_001267550.2:c.95886T>G (TTN) MANE Select NP_001254479.2:p.Asn31962Lys
NM_003319.4:c.68691T>G (TTN) NP_003310.4:p.Asn22897Lys
NM_133378.4:c.88182T>G (TTN) NP_596869.4:p.Asn29394Lys
NM_133432.3:c.69066T>G (TTN) NP_597676.3:p.Asn23022Lys
NM_133437.4:c.69267T>G (TTN) NP_597681.4:p.Asn23089Lys
NR_038271.1:n.446+20707A>C (TTN-AS1)
NR_038272.1:n.2043+1982A>C (TTN-AS1)
XM_011511729.1:c.94983T>G (TTN) XP_011510031.1:p.Asn31661Lys
XM_011511730.1:c.68877T>G (TTN) XP_011510032.1:p.Asn22959Lys
XM_011511731.1:c.68736T>G (TTN) XP_011510033.1:p.Asn22912Lys
XM_017004819.1:c.94779T>G (TTN) XP_016860308.1:p.Asn31593Lys
XM_017004820.1:c.90177T>G (TTN) XP_016860309.1:p.Asn30059Lys
XM_017004821.1:c.90174T>G (TTN) XP_016860310.1:p.Asn30058Lys
XM_017004822.1:c.87216T>G (TTN) XP_016860311.1:p.Asn29072Lys
XM_017004823.1:c.68832T>G (TTN) XP_016860312.1:p.Asn22944Lys
XM_024453094.1:c.90327T>G (TTN) XP_024308862.1:p.Asn30109Lys
XM_024453095.1:c.90324T>G (TTN) XP_024308863.1:p.Asn30108Lys
XM_024453096.1:c.89757T>G (TTN) XP_024308864.1:p.Asn29919Lys
XM_024453097.1:c.87099T>G (TTN) XP_024308865.1:p.Asn29033Lys
XM_024453098.1:c.87018T>G (TTN) XP_024308866.1:p.Asn29006Lys
XM_024453099.1:c.68781T>G (TTN) XP_024308867.1:p.Asn22927Lys
XM_024453100.1:c.58635T>G (TTN) XP_024308868.1:p.Asn19545Lys