Canonical Allele Identifier: CA430235539

Linked Data

dbSNP Id: rs1284377743

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530610A>G , CM000664.2:g.178530610A>G GRCh38
NC_000002.11:g.179395337A>G , CM000664.1:g.179395337A>G GRCh37
NC_000002.10:g.179103583A>G NCBI36
NG_011618.3:g.305193T>C , LRG_391:g.305193T>C
NG_051363.1:g.12784A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98301T>C (TTN) ENSP00000343764.6:p.His32767=
ENST00000342175.11:c.79386T>C (TTN) ENSP00000340554.6:p.His26462=
ENST00000359218.10:c.79185T>C (TTN) ENSP00000352154.5:p.His26395=
ENST00000342175.10:c.79386T>C (TTN) ENSP00000340554.6:p.His26462=
ENST00000342992.10:c.98301T>C (TTN) ENSP00000343764.6:p.His32767=
ENST00000359218.9:c.79185T>C (TTN) ENSP00000352154.5:p.His26395=
ENST00000460472.6:c.78810T>C (TTN) ENSP00000434586.1:p.His26270=
ENST00000589042.5:c.106005T>C (TTN) MANE Select ENSP00000467141.1:p.His35335=
ENST00000591111.5:c.101082T>C (TTN) ENSP00000465570.1:p.His33694=
ENST00000615779.4:c.101082T>C (TTN) ENSP00000483597.1:p.His33694=
NM_001256850.1:c.101082T>C (TTN) NP_001243779.1:p.His33694=
NM_001267550.2:c.106005T>C (TTN) MANE Select NP_001254479.2:p.His35335=
NM_003319.4:c.78810T>C (TTN) NP_003310.4:p.His26270=
NM_133378.4:c.98301T>C (TTN) NP_596869.4:p.His32767=
NM_133432.3:c.79185T>C (TTN) NP_597676.3:p.His26395=
NM_133437.4:c.79386T>C (TTN) NP_597681.4:p.His26462=
NR_038271.1:n.446+6974A>G (TTN-AS1)
NR_038272.1:n.220-5122A>G (TTN-AS1)
XM_011511729.1:c.105102T>C (TTN) XP_011510031.1:p.His35034=
XM_011511730.1:c.78996T>C (TTN) XP_011510032.1:p.His26332=
XM_011511731.1:c.78855T>C (TTN) XP_011510033.1:p.His26285=
XM_017004819.1:c.104898T>C (TTN) XP_016860308.1:p.His34966=
XM_017004820.1:c.100296T>C (TTN) XP_016860309.1:p.His33432=
XM_017004821.1:c.100293T>C (TTN) XP_016860310.1:p.His33431=
XM_017004822.1:c.97335T>C (TTN) XP_016860311.1:p.His32445=
XM_017004823.1:c.78951T>C (TTN) XP_016860312.1:p.His26317=
XM_024453094.1:c.100446T>C (TTN) XP_024308862.1:p.His33482=
XM_024453095.1:c.100443T>C (TTN) XP_024308863.1:p.His33481=
XM_024453096.1:c.99876T>C (TTN) XP_024308864.1:p.His33292=
XM_024453097.1:c.97218T>C (TTN) XP_024308865.1:p.His32406=
XM_024453098.1:c.97137T>C (TTN) XP_024308866.1:p.His32379=
XM_024453099.1:c.78900T>C (TTN) XP_024308867.1:p.His26300=
XM_024453100.1:c.68754T>C (TTN) XP_024308868.1:p.His22918=