Canonical Allele Identifier: CA349417282

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534063T>G , CM000664.2:g.178534063T>G GRCh38
NC_000002.11:g.179398790T>G , CM000664.1:g.179398790T>G GRCh37
NC_000002.10:g.179107036T>G NCBI36
NG_011618.3:g.301740A>C , LRG_391:g.301740A>C
NG_051363.1:g.16237T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94848A>C (TTN) ENSP00000343764.6:p.Glu31616Asp
ENST00000342175.11:c.75933A>C (TTN) ENSP00000340554.6:p.Glu25311Asp
ENST00000359218.10:c.75732A>C (TTN) ENSP00000352154.5:p.Glu25244Asp
ENST00000342175.10:c.75933A>C (TTN) ENSP00000340554.6:p.Glu25311Asp
ENST00000342992.10:c.94848A>C (TTN) ENSP00000343764.6:p.Glu31616Asp
ENST00000359218.9:c.75732A>C (TTN) ENSP00000352154.5:p.Glu25244Asp
ENST00000460472.6:c.75357A>C (TTN) ENSP00000434586.1:p.Glu25119Asp
ENST00000589042.5:c.102552A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34184Asp
ENST00000591111.5:c.97629A>C (TTN) ENSP00000465570.1:p.Glu32543Asp
ENST00000615779.4:c.97629A>C (TTN) ENSP00000483597.1:p.Glu32543Asp
NM_001256850.1:c.97629A>C (TTN) NP_001243779.1:p.Glu32543Asp
NM_001267550.2:c.102552A>C (TTN) MANE Select NP_001254479.2:p.Glu34184Asp
NM_003319.4:c.75357A>C (TTN) NP_003310.4:p.Glu25119Asp
NM_133378.4:c.94848A>C (TTN) NP_596869.4:p.Glu31616Asp
NM_133432.3:c.75732A>C (TTN) NP_597676.3:p.Glu25244Asp
NM_133437.4:c.75933A>C (TTN) NP_597681.4:p.Glu25311Asp
NR_038271.1:n.446+10427T>G (TTN-AS1)
NR_038272.1:n.220-1669T>G (TTN-AS1)
XM_011511729.1:c.101649A>C (TTN) XP_011510031.1:p.Glu33883Asp
XM_011511730.1:c.75543A>C (TTN) XP_011510032.1:p.Glu25181Asp
XM_011511731.1:c.75402A>C (TTN) XP_011510033.1:p.Glu25134Asp
XM_017004819.1:c.101445A>C (TTN) XP_016860308.1:p.Glu33815Asp
XM_017004820.1:c.96843A>C (TTN) XP_016860309.1:p.Glu32281Asp
XM_017004821.1:c.96840A>C (TTN) XP_016860310.1:p.Glu32280Asp
XM_017004822.1:c.93882A>C (TTN) XP_016860311.1:p.Glu31294Asp
XM_017004823.1:c.75498A>C (TTN) XP_016860312.1:p.Glu25166Asp
XM_024453094.1:c.96993A>C (TTN) XP_024308862.1:p.Glu32331Asp
XM_024453095.1:c.96990A>C (TTN) XP_024308863.1:p.Glu32330Asp
XM_024453096.1:c.96423A>C (TTN) XP_024308864.1:p.Glu32141Asp
XM_024453097.1:c.93765A>C (TTN) XP_024308865.1:p.Glu31255Asp
XM_024453098.1:c.93684A>C (TTN) XP_024308866.1:p.Glu31228Asp
XM_024453099.1:c.75447A>C (TTN) XP_024308867.1:p.Glu25149Asp
XM_024453100.1:c.65301A>C (TTN) XP_024308868.1:p.Glu21767Asp