Canonical Allele Identifier: CA349477370
Community Standard Title: NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590713C>A , CM000664.2:g.178590713C>A GRCh38
NC_000002.11:g.179455440C>A , CM000664.1:g.179455440C>A GRCh37
NC_000002.10:g.179163686C>A NCBI36
NG_011618.3:g.245090G>T , LRG_391:g.245090G>T
NG_051363.1:g.72887C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61012G>T (TTN) MANE Select NP_001254479.2:p.Gly20338Ter
ENST00000589042.5:c.61012G>T (TTN) MANE Select ENSP00000467141.1:p.Gly20338Ter
NM_001256850.1:c.56089G>T (TTN) NP_001243779.1:p.Gly18697Ter
NM_003319.4:c.33817G>T (TTN) NP_003310.4:p.Gly11273Ter
NM_133378.4:c.53308G>T (TTN) NP_596869.4:p.Gly17770Ter
NM_133432.3:c.34192G>T (TTN) NP_597676.3:p.Gly11398Ter
NM_133437.4:c.34393G>T (TTN) NP_597681.4:p.Gly11465Ter
NR_038271.1:n.597-6883C>A (TTN-AS1)
NR_038272.1:n.3189-426C>A (TTN-AS1)
ENST00000342175.10:c.34393G>T (TTN) ENSP00000340554.6:p.Gly11465Ter
ENST00000342175.11:c.34393G>T (TTN) ENSP00000340554.6:p.Gly11465Ter
ENST00000342992.10:c.53308G>T (TTN) ENSP00000343764.6:p.Gly17770Ter
ENST00000342992.11:c.53308G>T (TTN) ENSP00000343764.6:p.Gly17770Ter
ENST00000359218.10:c.34192G>T (TTN) ENSP00000352154.5:p.Gly11398Ter
ENST00000359218.9:c.34192G>T (TTN) ENSP00000352154.5:p.Gly11398Ter
ENST00000460472.6:c.33817G>T (TTN) ENSP00000434586.1:p.Gly11273Ter
ENST00000591111.5:c.56089G>T (TTN) ENSP00000465570.1:p.Gly18697Ter
ENST00000615779.4:c.56089G>T (TTN) ENSP00000483597.1:p.Gly18697Ter
XM_011511729.1:c.60109G>T (TTN) XP_011510031.1:p.Gly20037Ter
XM_011511730.1:c.34003G>T (TTN) XP_011510032.1:p.Gly11335Ter
XM_011511731.1:c.33862G>T (TTN) XP_011510033.1:p.Gly11288Ter
XM_017004819.1:c.59905G>T (TTN) XP_016860308.1:p.Gly19969Ter
XM_017004820.1:c.55303G>T (TTN) XP_016860309.1:p.Gly18435Ter
XM_017004821.1:c.55300G>T (TTN) XP_016860310.1:p.Gly18434Ter
XM_017004822.1:c.52342G>T (TTN) XP_016860311.1:p.Gly17448Ter
XM_017004823.1:c.33958G>T (TTN) XP_016860312.1:p.Gly11320Ter
XM_024453094.1:c.55453G>T (TTN) XP_024308862.1:p.Gly18485Ter
XM_024453095.1:c.55450G>T (TTN) XP_024308863.1:p.Gly18484Ter
XM_024453096.1:c.54883G>T (TTN) XP_024308864.1:p.Gly18295Ter
XM_024453097.1:c.52225G>T (TTN) XP_024308865.1:p.Gly17409Ter
XM_024453098.1:c.52144G>T (TTN) XP_024308866.1:p.Gly17382Ter
XM_024453099.1:c.33907G>T (TTN) XP_024308867.1:p.Gly11303Ter
XM_024453100.1:c.23761G>T (TTN) XP_024308868.1:p.Gly7921Ter