Canonical Allele Identifier: CA349398236

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527056C>T , CM000664.2:g.178527056C>T GRCh38
NC_000002.11:g.179391783C>T , CM000664.1:g.179391783C>T GRCh37
NC_000002.10:g.179100029C>T NCBI36
NG_011618.3:g.308747G>A , LRG_391:g.308747G>A
NG_051363.1:g.9230C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100228G>A (TTN) ENSP00000343764.6:p.Gly33410Arg
ENST00000342175.11:c.81313G>A (TTN) ENSP00000340554.6:p.Gly27105Arg
ENST00000359218.10:c.81112G>A (TTN) ENSP00000352154.5:p.Gly27038Arg
ENST00000342175.10:c.81313G>A (TTN) ENSP00000340554.6:p.Gly27105Arg
ENST00000342992.10:c.100228G>A (TTN) ENSP00000343764.6:p.Gly33410Arg
ENST00000359218.9:c.81112G>A (TTN) ENSP00000352154.5:p.Gly27038Arg
ENST00000460472.6:c.80737G>A (TTN) ENSP00000434586.1:p.Gly26913Arg
ENST00000589042.5:c.107932G>A (TTN) MANE Select ENSP00000467141.1:p.Gly35978Arg
ENST00000591111.5:c.103009G>A (TTN) ENSP00000465570.1:p.Gly34337Arg
ENST00000615779.4:c.103009G>A (TTN) ENSP00000483597.1:p.Gly34337Arg
NM_001256850.1:c.103009G>A (TTN) NP_001243779.1:p.Gly34337Arg
NM_001267550.2:c.107932G>A (TTN) MANE Select NP_001254479.2:p.Gly35978Arg
NM_003319.4:c.80737G>A (TTN) NP_003310.4:p.Gly26913Arg
NM_133378.4:c.100228G>A (TTN) NP_596869.4:p.Gly33410Arg
NM_133432.3:c.81112G>A (TTN) NP_597676.3:p.Gly27038Arg
NM_133437.4:c.81313G>A (TTN) NP_597681.4:p.Gly27105Arg
NR_038271.1:n.446+3420C>T (TTN-AS1)
NR_038272.1:n.219+3420C>T (TTN-AS1)
XM_011511729.1:c.107029G>A (TTN) XP_011510031.1:p.Gly35677Arg
XM_011511730.1:c.80923G>A (TTN) XP_011510032.1:p.Gly26975Arg
XM_011511731.1:c.80782G>A (TTN) XP_011510033.1:p.Gly26928Arg
XM_017004819.1:c.106825G>A (TTN) XP_016860308.1:p.Gly35609Arg
XM_017004820.1:c.102223G>A (TTN) XP_016860309.1:p.Gly34075Arg
XM_017004821.1:c.102220G>A (TTN) XP_016860310.1:p.Gly34074Arg
XM_017004822.1:c.99262G>A (TTN) XP_016860311.1:p.Gly33088Arg
XM_017004823.1:c.80878G>A (TTN) XP_016860312.1:p.Gly26960Arg
XM_024453094.1:c.102373G>A (TTN) XP_024308862.1:p.Gly34125Arg
XM_024453095.1:c.102370G>A (TTN) XP_024308863.1:p.Gly34124Arg
XM_024453096.1:c.101803G>A (TTN) XP_024308864.1:p.Gly33935Arg
XM_024453097.1:c.99145G>A (TTN) XP_024308865.1:p.Gly33049Arg
XM_024453098.1:c.99064G>A (TTN) XP_024308866.1:p.Gly33022Arg
XM_024453099.1:c.80827G>A (TTN) XP_024308867.1:p.Gly26943Arg
XM_024453100.1:c.70681G>A (TTN) XP_024308868.1:p.Gly23561Arg