Canonical Allele Identifier: CA349479453

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590931G>C , CM000664.2:g.178590931G>C GRCh38
NC_000002.11:g.179455658G>C , CM000664.1:g.179455658G>C GRCh37
NC_000002.10:g.179163904G>C NCBI36
NG_011618.3:g.244872C>G , LRG_391:g.244872C>G
NG_051363.1:g.73105G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53090C>G (TTN) ENSP00000343764.6:p.Ala17697Gly
ENST00000342175.11:c.34175C>G (TTN) ENSP00000340554.6:p.Ala11392Gly
ENST00000359218.10:c.33974C>G (TTN) ENSP00000352154.5:p.Ala11325Gly
ENST00000342175.10:c.34175C>G (TTN) ENSP00000340554.6:p.Ala11392Gly
ENST00000342992.10:c.53090C>G (TTN) ENSP00000343764.6:p.Ala17697Gly
ENST00000359218.9:c.33974C>G (TTN) ENSP00000352154.5:p.Ala11325Gly
ENST00000460472.6:c.33599C>G (TTN) ENSP00000434586.1:p.Ala11200Gly
ENST00000589042.5:c.60794C>G (TTN) MANE Select ENSP00000467141.1:p.Ala20265Gly
ENST00000591111.5:c.55871C>G (TTN) ENSP00000465570.1:p.Ala18624Gly
ENST00000615779.4:c.55871C>G (TTN) ENSP00000483597.1:p.Ala18624Gly
NM_001256850.1:c.55871C>G (TTN) NP_001243779.1:p.Ala18624Gly
NM_001267550.2:c.60794C>G (TTN) MANE Select NP_001254479.2:p.Ala20265Gly
NM_003319.4:c.33599C>G (TTN) NP_003310.4:p.Ala11200Gly
NM_133378.4:c.53090C>G (TTN) NP_596869.4:p.Ala17697Gly
NM_133432.3:c.33974C>G (TTN) NP_597676.3:p.Ala11325Gly
NM_133437.4:c.34175C>G (TTN) NP_597681.4:p.Ala11392Gly
NR_038271.1:n.597-6665G>C (TTN-AS1)
NR_038272.1:n.3189-208G>C (TTN-AS1)
XM_011511729.1:c.59891C>G (TTN) XP_011510031.1:p.Ala19964Gly
XM_011511730.1:c.33785C>G (TTN) XP_011510032.1:p.Ala11262Gly
XM_011511731.1:c.33644C>G (TTN) XP_011510033.1:p.Ala11215Gly
XM_017004819.1:c.59687C>G (TTN) XP_016860308.1:p.Ala19896Gly
XM_017004820.1:c.55085C>G (TTN) XP_016860309.1:p.Ala18362Gly
XM_017004821.1:c.55082C>G (TTN) XP_016860310.1:p.Ala18361Gly
XM_017004822.1:c.52124C>G (TTN) XP_016860311.1:p.Ala17375Gly
XM_017004823.1:c.33740C>G (TTN) XP_016860312.1:p.Ala11247Gly
XM_024453094.1:c.55235C>G (TTN) XP_024308862.1:p.Ala18412Gly
XM_024453095.1:c.55232C>G (TTN) XP_024308863.1:p.Ala18411Gly
XM_024453096.1:c.54665C>G (TTN) XP_024308864.1:p.Ala18222Gly
XM_024453097.1:c.52007C>G (TTN) XP_024308865.1:p.Ala17336Gly
XM_024453098.1:c.51926C>G (TTN) XP_024308866.1:p.Ala17309Gly
XM_024453099.1:c.33689C>G (TTN) XP_024308867.1:p.Ala11230Gly
XM_024453100.1:c.23543C>G (TTN) XP_024308868.1:p.Ala7848Gly