Canonical Allele Identifier: CA349616689
Community Standard Title: NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617864G>T , CM000664.2:g.178617864G>T GRCh38
NC_000002.11:g.179482591G>T , CM000664.1:g.179482591G>T GRCh37
NC_000002.10:g.179190836G>T NCBI36
NG_011618.3:g.217939C>A , LRG_391:g.217939C>A
NG_051363.1:g.100038G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47487C>A (TTN) MANE Select NP_001254479.2:p.Tyr15829Ter
ENST00000589042.5:c.47487C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr15829Ter
NM_001256850.1:c.42564C>A (TTN) NP_001243779.1:p.Tyr14188Ter
NM_003319.4:c.20292C>A (TTN) NP_003310.4:p.Tyr6764Ter
NM_133378.4:c.39783C>A (TTN) NP_596869.4:p.Tyr13261Ter
NM_133432.3:c.20667C>A (TTN) NP_597676.3:p.Tyr6889Ter
NM_133437.4:c.20868C>A (TTN) NP_597681.4:p.Tyr6956Ter
NR_038271.1:n.1605-1889G>T (TTN-AS1)
ENST00000342175.10:c.20868C>A (TTN) ENSP00000340554.6:p.Tyr6956Ter
ENST00000342175.11:c.20868C>A (TTN) ENSP00000340554.6:p.Tyr6956Ter
ENST00000342992.10:c.39783C>A (TTN) ENSP00000343764.6:p.Tyr13261Ter
ENST00000342992.11:c.39783C>A (TTN) ENSP00000343764.6:p.Tyr13261Ter
ENST00000359218.10:c.20667C>A (TTN) ENSP00000352154.5:p.Tyr6889Ter
ENST00000359218.9:c.20667C>A (TTN) ENSP00000352154.5:p.Tyr6889Ter
ENST00000460472.6:c.20292C>A (TTN) ENSP00000434586.1:p.Tyr6764Ter
ENST00000591111.5:c.42564C>A (TTN) ENSP00000465570.1:p.Tyr14188Ter
ENST00000615779.4:c.42564C>A (TTN) ENSP00000483597.1:p.Tyr14188Ter
XM_011511729.1:c.46584C>A (TTN) XP_011510031.1:p.Tyr15528Ter
XM_011511730.1:c.20478C>A (TTN) XP_011510032.1:p.Tyr6826Ter
XM_011511731.1:c.20337C>A (TTN) XP_011510033.1:p.Tyr6779Ter
XM_017004819.1:c.46380C>A (TTN) XP_016860308.1:p.Tyr15460Ter
XM_017004820.1:c.41778C>A (TTN) XP_016860309.1:p.Tyr13926Ter
XM_017004821.1:c.41775C>A (TTN) XP_016860310.1:p.Tyr13925Ter
XM_017004822.1:c.38817C>A (TTN) XP_016860311.1:p.Tyr12939Ter
XM_017004823.1:c.20433C>A (TTN) XP_016860312.1:p.Tyr6811Ter
XM_024453094.1:c.41928C>A (TTN) XP_024308862.1:p.Tyr13976Ter
XM_024453095.1:c.41925C>A (TTN) XP_024308863.1:p.Tyr13975Ter
XM_024453096.1:c.41358C>A (TTN) XP_024308864.1:p.Tyr13786Ter
XM_024453097.1:c.38700C>A (TTN) XP_024308865.1:p.Tyr12900Ter
XM_024453098.1:c.38619C>A (TTN) XP_024308866.1:p.Tyr12873Ter
XM_024453099.1:c.20382C>A (TTN) XP_024308867.1:p.Tyr6794Ter
XM_024453100.1:c.10236C>A (TTN) XP_024308868.1:p.Tyr3412Ter