Canonical Allele Identifier: CA1990912

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576614G>A , CM000664.2:g.178576614G>A GRCh38
NC_000002.11:g.179441341G>A , CM000664.1:g.179441341G>A GRCh37
NC_000002.10:g.179149587G>A NCBI36
NG_011618.3:g.259189C>T , LRG_391:g.259189C>T
NG_051363.1:g.58788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.61926C>T (TTN) ENSP00000343764.6:p.Tyr20642=
ENST00000342175.11:c.43011C>T (TTN) ENSP00000340554.6:p.Tyr14337=
ENST00000359218.10:c.42810C>T (TTN) ENSP00000352154.5:p.Tyr14270=
ENST00000342175.10:c.43011C>T (TTN) ENSP00000340554.6:p.Tyr14337=
ENST00000342992.10:c.61926C>T (TTN) ENSP00000343764.6:p.Tyr20642=
ENST00000359218.9:c.42810C>T (TTN) ENSP00000352154.5:p.Tyr14270=
ENST00000460472.6:c.42435C>T (TTN) ENSP00000434586.1:p.Tyr14145=
ENST00000589042.5:c.69630C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr23210=
ENST00000591111.5:c.64707C>T (TTN) ENSP00000465570.1:p.Tyr21569=
ENST00000615779.4:c.64707C>T (TTN) ENSP00000483597.1:p.Tyr21569=
NM_001256850.1:c.64707C>T (TTN) NP_001243779.1:p.Tyr21569=
NM_001267550.2:c.69630C>T (TTN) MANE Select NP_001254479.2:p.Tyr23210=
NM_003319.4:c.42435C>T (TTN) NP_003310.4:p.Tyr14145=
NM_133378.4:c.61926C>T (TTN) NP_596869.4:p.Tyr20642=
NM_133432.3:c.42810C>T (TTN) NP_597676.3:p.Tyr14270=
NM_133437.4:c.43011C>T (TTN) NP_597681.4:p.Tyr14337=
NR_038271.1:n.596+5165G>A (TTN-AS1)
NR_038272.1:n.2044-5958G>A (TTN-AS1)
XM_011511729.1:c.68727C>T (TTN) XP_011510031.1:p.Tyr22909=
XM_011511730.1:c.42621C>T (TTN) XP_011510032.1:p.Tyr14207=
XM_011511731.1:c.42480C>T (TTN) XP_011510033.1:p.Tyr14160=
XM_017004819.1:c.68523C>T (TTN) XP_016860308.1:p.Tyr22841=
XM_017004820.1:c.63921C>T (TTN) XP_016860309.1:p.Tyr21307=
XM_017004821.1:c.63918C>T (TTN) XP_016860310.1:p.Tyr21306=
XM_017004822.1:c.60960C>T (TTN) XP_016860311.1:p.Tyr20320=
XM_017004823.1:c.42576C>T (TTN) XP_016860312.1:p.Tyr14192=
XM_024453094.1:c.64071C>T (TTN) XP_024308862.1:p.Tyr21357=
XM_024453095.1:c.64068C>T (TTN) XP_024308863.1:p.Tyr21356=
XM_024453096.1:c.63501C>T (TTN) XP_024308864.1:p.Tyr21167=
XM_024453097.1:c.60843C>T (TTN) XP_024308865.1:p.Tyr20281=
XM_024453098.1:c.60762C>T (TTN) XP_024308866.1:p.Tyr20254=
XM_024453099.1:c.42525C>T (TTN) XP_024308867.1:p.Tyr14175=
XM_024453100.1:c.32379C>T (TTN) XP_024308868.1:p.Tyr10793=