Canonical Allele Identifier: CA1310521505

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544313C= , CM000664.2:g.178544313C= GRCh38
NC_000002.11:g.179409040C= , CM000664.1:g.179409040C= GRCh37
NC_000002.10:g.179117286C= NCBI36
NG_011618.3:g.291490G= , LRG_391:g.291490G=
NG_051363.1:g.26487C=

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88212G= (TTN) ENSP00000343764.6:p.Val29404=
ENST00000342175.11:c.69297G= (TTN) ENSP00000340554.6:p.Val23099=
ENST00000359218.10:c.69096G= (TTN) ENSP00000352154.5:p.Val23032=
ENST00000342175.10:c.69297G= (TTN) ENSP00000340554.6:p.Val23099=
ENST00000342992.10:c.88212G= (TTN) ENSP00000343764.6:p.Val29404=
ENST00000359218.9:c.69096G= (TTN) ENSP00000352154.5:p.Val23032=
ENST00000460472.6:c.68721G= (TTN) ENSP00000434586.1:p.Val22907=
ENST00000589042.5:c.95916G= (TTN) MANE Select ENSP00000467141.1:p.Val31972=
ENST00000591111.5:c.90993G= (TTN) ENSP00000465570.1:p.Val30331=
ENST00000615779.4:c.90993G= (TTN) ENSP00000483597.1:p.Val30331=
NM_001256850.1:c.90993G= (TTN) NP_001243779.1:p.Val30331=
NM_001267550.2:c.95916G= (TTN) MANE Select NP_001254479.2:p.Val31972=
NM_003319.4:c.68721G= (TTN) NP_003310.4:p.Val22907=
NM_133378.4:c.88212G= (TTN) NP_596869.4:p.Val29404=
NM_133432.3:c.69096G= (TTN) NP_597676.3:p.Val23032=
NM_133437.4:c.69297G= (TTN) NP_597681.4:p.Val23099=
NR_038271.1:n.446+20677C= (TTN-AS1)
NR_038272.1:n.2043+1952C= (TTN-AS1)
XM_011511729.1:c.95013G= (TTN) XP_011510031.1:p.Val31671=
XM_011511730.1:c.68907G= (TTN) XP_011510032.1:p.Val22969=
XM_011511731.1:c.68766G= (TTN) XP_011510033.1:p.Val22922=
XM_017004819.1:c.94809G= (TTN) XP_016860308.1:p.Val31603=
XM_017004820.1:c.90207G= (TTN) XP_016860309.1:p.Val30069=
XM_017004821.1:c.90204G= (TTN) XP_016860310.1:p.Val30068=
XM_017004822.1:c.87246G= (TTN) XP_016860311.1:p.Val29082=
XM_017004823.1:c.68862G= (TTN) XP_016860312.1:p.Val22954=
XM_024453094.1:c.90357G= (TTN) XP_024308862.1:p.Val30119=
XM_024453095.1:c.90354G= (TTN) XP_024308863.1:p.Val30118=
XM_024453096.1:c.89787G= (TTN) XP_024308864.1:p.Val29929=
XM_024453097.1:c.87129G= (TTN) XP_024308865.1:p.Val29043=
XM_024453098.1:c.87048G= (TTN) XP_024308866.1:p.Val29016=
XM_024453099.1:c.68811G= (TTN) XP_024308867.1:p.Val22937=
XM_024453100.1:c.58665G= (TTN) XP_024308868.1:p.Val19555=