Canonical Allele Identifier: CA349450257

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543839A>C , CM000664.2:g.178543839A>C GRCh38
NC_000002.11:g.179408566A>C , CM000664.1:g.179408566A>C GRCh37
NC_000002.10:g.179116812A>C NCBI36
NG_011618.3:g.291964T>G , LRG_391:g.291964T>G
NG_051363.1:g.26013A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88601T>G (TTN) ENSP00000343764.6:p.Val29534Gly
ENST00000342175.11:c.69686T>G (TTN) ENSP00000340554.6:p.Val23229Gly
ENST00000359218.10:c.69485T>G (TTN) ENSP00000352154.5:p.Val23162Gly
ENST00000342175.10:c.69686T>G (TTN) ENSP00000340554.6:p.Val23229Gly
ENST00000342992.10:c.88601T>G (TTN) ENSP00000343764.6:p.Val29534Gly
ENST00000359218.9:c.69485T>G (TTN) ENSP00000352154.5:p.Val23162Gly
ENST00000460472.6:c.69110T>G (TTN) ENSP00000434586.1:p.Val23037Gly
ENST00000589042.5:c.96305T>G (TTN) MANE Select ENSP00000467141.1:p.Val32102Gly
ENST00000591111.5:c.91382T>G (TTN) ENSP00000465570.1:p.Val30461Gly
ENST00000615779.4:c.91382T>G (TTN) ENSP00000483597.1:p.Val30461Gly
NM_001256850.1:c.91382T>G (TTN) NP_001243779.1:p.Val30461Gly
NM_001267550.2:c.96305T>G (TTN) MANE Select NP_001254479.2:p.Val32102Gly
NM_003319.4:c.69110T>G (TTN) NP_003310.4:p.Val23037Gly
NM_133378.4:c.88601T>G (TTN) NP_596869.4:p.Val29534Gly
NM_133432.3:c.69485T>G (TTN) NP_597676.3:p.Val23162Gly
NM_133437.4:c.69686T>G (TTN) NP_597681.4:p.Val23229Gly
NR_038271.1:n.446+20203A>C (TTN-AS1)
NR_038272.1:n.2043+1478A>C (TTN-AS1)
XM_011511729.1:c.95402T>G (TTN) XP_011510031.1:p.Val31801Gly
XM_011511730.1:c.69296T>G (TTN) XP_011510032.1:p.Val23099Gly
XM_011511731.1:c.69155T>G (TTN) XP_011510033.1:p.Val23052Gly
XM_017004819.1:c.95198T>G (TTN) XP_016860308.1:p.Val31733Gly
XM_017004820.1:c.90596T>G (TTN) XP_016860309.1:p.Val30199Gly
XM_017004821.1:c.90593T>G (TTN) XP_016860310.1:p.Val30198Gly
XM_017004822.1:c.87635T>G (TTN) XP_016860311.1:p.Val29212Gly
XM_017004823.1:c.69251T>G (TTN) XP_016860312.1:p.Val23084Gly
XM_024453094.1:c.90746T>G (TTN) XP_024308862.1:p.Val30249Gly
XM_024453095.1:c.90743T>G (TTN) XP_024308863.1:p.Val30248Gly
XM_024453096.1:c.90176T>G (TTN) XP_024308864.1:p.Val30059Gly
XM_024453097.1:c.87518T>G (TTN) XP_024308865.1:p.Val29173Gly
XM_024453098.1:c.87437T>G (TTN) XP_024308866.1:p.Val29146Gly
XM_024453099.1:c.69200T>G (TTN) XP_024308867.1:p.Val23067Gly
XM_024453100.1:c.59054T>G (TTN) XP_024308868.1:p.Val19685Gly