Canonical Allele Identifier: CA349599291
Community Standard Title: NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612430G>A , CM000664.2:g.178612430G>A GRCh38
NC_000002.11:g.179477157G>A , CM000664.1:g.179477157G>A GRCh37
NC_000002.10:g.179185402G>A NCBI36
NG_011618.3:g.223373C>T , LRG_391:g.223373C>T
NG_051363.1:g.94604G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50095C>T (TTN) MANE Select NP_001254479.2:p.Gln16699Ter
ENST00000589042.5:c.50095C>T (TTN) MANE Select ENSP00000467141.1:p.Gln16699Ter
NM_001256850.1:c.45172C>T (TTN) NP_001243779.1:p.Gln15058Ter
NM_003319.4:c.22900C>T (TTN) NP_003310.4:p.Gln7634Ter
NM_133378.4:c.42391C>T (TTN) NP_596869.4:p.Gln14131Ter
NM_133432.3:c.23275C>T (TTN) NP_597676.3:p.Gln7759Ter
NM_133437.4:c.23476C>T (TTN) NP_597681.4:p.Gln7826Ter
NR_038271.1:n.783-1605G>A (TTN-AS1)
ENST00000342175.10:c.23476C>T (TTN) ENSP00000340554.6:p.Gln7826Ter
ENST00000342175.11:c.23476C>T (TTN) ENSP00000340554.6:p.Gln7826Ter
ENST00000342992.10:c.42391C>T (TTN) ENSP00000343764.6:p.Gln14131Ter
ENST00000342992.11:c.42391C>T (TTN) ENSP00000343764.6:p.Gln14131Ter
ENST00000359218.10:c.23275C>T (TTN) ENSP00000352154.5:p.Gln7759Ter
ENST00000359218.9:c.23275C>T (TTN) ENSP00000352154.5:p.Gln7759Ter
ENST00000460472.6:c.22900C>T (TTN) ENSP00000434586.1:p.Gln7634Ter
ENST00000591111.5:c.45172C>T (TTN) ENSP00000465570.1:p.Gln15058Ter
ENST00000615779.4:c.45172C>T (TTN) ENSP00000483597.1:p.Gln15058Ter
XM_011511729.1:c.49192C>T (TTN) XP_011510031.1:p.Gln16398Ter
XM_011511730.1:c.23086C>T (TTN) XP_011510032.1:p.Gln7696Ter
XM_011511731.1:c.22945C>T (TTN) XP_011510033.1:p.Gln7649Ter
XM_017004819.1:c.48988C>T (TTN) XP_016860308.1:p.Gln16330Ter
XM_017004820.1:c.44386C>T (TTN) XP_016860309.1:p.Gln14796Ter
XM_017004821.1:c.44383C>T (TTN) XP_016860310.1:p.Gln14795Ter
XM_017004822.1:c.41425C>T (TTN) XP_016860311.1:p.Gln13809Ter
XM_017004823.1:c.23041C>T (TTN) XP_016860312.1:p.Gln7681Ter
XM_024453094.1:c.44536C>T (TTN) XP_024308862.1:p.Gln14846Ter
XM_024453095.1:c.44533C>T (TTN) XP_024308863.1:p.Gln14845Ter
XM_024453096.1:c.43966C>T (TTN) XP_024308864.1:p.Gln14656Ter
XM_024453097.1:c.41308C>T (TTN) XP_024308865.1:p.Gln13770Ter
XM_024453098.1:c.41227C>T (TTN) XP_024308866.1:p.Gln13743Ter
XM_024453099.1:c.22990C>T (TTN) XP_024308867.1:p.Gln7664Ter
XM_024453100.1:c.12844C>T (TTN) XP_024308868.1:p.Gln4282Ter