Canonical Allele Identifier: CA16610381

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617328G>A , CM000664.2:g.178617328G>A GRCh38
NC_000002.11:g.179482055G>A , CM000664.1:g.179482055G>A GRCh37
NC_000002.10:g.179190300G>A NCBI36
NG_011618.3:g.218475C>T , LRG_391:g.218475C>T
NG_051363.1:g.99502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.40053C>T (TTN) ENSP00000343764.6:p.Tyr13351=
ENST00000342175.11:c.21138C>T (TTN) ENSP00000340554.6:p.Tyr7046=
ENST00000359218.10:c.20937C>T (TTN) ENSP00000352154.5:p.Tyr6979=
ENST00000342175.10:c.21138C>T (TTN) ENSP00000340554.6:p.Tyr7046=
ENST00000342992.10:c.40053C>T (TTN) ENSP00000343764.6:p.Tyr13351=
ENST00000359218.9:c.20937C>T (TTN) ENSP00000352154.5:p.Tyr6979=
ENST00000460472.6:c.20562C>T (TTN) ENSP00000434586.1:p.Tyr6854=
ENST00000589042.5:c.47757C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr15919=
ENST00000591111.5:c.42834C>T (TTN) ENSP00000465570.1:p.Tyr14278=
ENST00000615779.4:c.42834C>T (TTN) ENSP00000483597.1:p.Tyr14278=
NM_001256850.1:c.42834C>T (TTN) NP_001243779.1:p.Tyr14278=
NM_001267550.2:c.47757C>T (TTN) MANE Select NP_001254479.2:p.Tyr15919=
NM_003319.4:c.20562C>T (TTN) NP_003310.4:p.Tyr6854=
NM_133378.4:c.40053C>T (TTN) NP_596869.4:p.Tyr13351=
NM_133432.3:c.20937C>T (TTN) NP_597676.3:p.Tyr6979=
NM_133437.4:c.21138C>T (TTN) NP_597681.4:p.Tyr7046=
NR_038271.1:n.1604+1954G>A (TTN-AS1)
XM_011511729.1:c.46854C>T (TTN) XP_011510031.1:p.Tyr15618=
XM_011511730.1:c.20748C>T (TTN) XP_011510032.1:p.Tyr6916=
XM_011511731.1:c.20607C>T (TTN) XP_011510033.1:p.Tyr6869=
XM_017004819.1:c.46650C>T (TTN) XP_016860308.1:p.Tyr15550=
XM_017004820.1:c.42048C>T (TTN) XP_016860309.1:p.Tyr14016=
XM_017004821.1:c.42045C>T (TTN) XP_016860310.1:p.Tyr14015=
XM_017004822.1:c.39087C>T (TTN) XP_016860311.1:p.Tyr13029=
XM_017004823.1:c.20703C>T (TTN) XP_016860312.1:p.Tyr6901=
XM_024453094.1:c.42198C>T (TTN) XP_024308862.1:p.Tyr14066=
XM_024453095.1:c.42195C>T (TTN) XP_024308863.1:p.Tyr14065=
XM_024453096.1:c.41628C>T (TTN) XP_024308864.1:p.Tyr13876=
XM_024453097.1:c.38970C>T (TTN) XP_024308865.1:p.Tyr12990=
XM_024453098.1:c.38889C>T (TTN) XP_024308866.1:p.Tyr12963=
XM_024453099.1:c.20652C>T (TTN) XP_024308867.1:p.Tyr6884=
XM_024453100.1:c.10506C>T (TTN) XP_024308868.1:p.Tyr3502=