Canonical Allele Identifier: CA302342

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540145C>T , CM000664.2:g.178540145C>T GRCh38
NC_000002.11:g.179404872C>T , CM000664.1:g.179404872C>T GRCh37
NC_000002.10:g.179113118C>T NCBI36
NG_011618.3:g.295658G>A , LRG_391:g.295658G>A
NG_051363.1:g.22319C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.98021G>A (TTN) MANE Select NP_001254479.2:p.Arg32674His
ENST00000589042.5:c.98021G>A (TTN) MANE Select ENSP00000467141.1:p.Arg32674His
NM_001256850.1:c.93098G>A (TTN) NP_001243779.1:p.Arg31033His
NM_003319.4:c.70826G>A (TTN) NP_003310.4:p.Arg23609His
NM_133378.4:c.90317G>A (TTN) NP_596869.4:p.Arg30106His
NM_133432.3:c.71201G>A (TTN) NP_597676.3:p.Arg23734His
NM_133437.4:c.71402G>A (TTN) NP_597681.4:p.Arg23801His
NR_038271.1:n.446+16509C>T (TTN-AS1)
NR_038272.1:n.1879C>T (TTN-AS1)
ENST00000342175.10:c.71402G>A (TTN) ENSP00000340554.6:p.Arg23801His
ENST00000342175.11:c.71402G>A (TTN) ENSP00000340554.6:p.Arg23801His
ENST00000342992.10:c.90317G>A (TTN) ENSP00000343764.6:p.Arg30106His
ENST00000342992.11:c.90317G>A (TTN) ENSP00000343764.6:p.Arg30106His
ENST00000359218.10:c.71201G>A (TTN) ENSP00000352154.5:p.Arg23734His
ENST00000359218.9:c.71201G>A (TTN) ENSP00000352154.5:p.Arg23734His
ENST00000460472.6:c.70826G>A (TTN) ENSP00000434586.1:p.Arg23609His
ENST00000591111.5:c.93098G>A (TTN) ENSP00000465570.1:p.Arg31033His
ENST00000615779.4:c.93098G>A (TTN) ENSP00000483597.1:p.Arg31033His
XM_011511729.1:c.97118G>A (TTN) XP_011510031.1:p.Arg32373His
XM_011511730.1:c.71012G>A (TTN) XP_011510032.1:p.Arg23671His
XM_011511731.1:c.70871G>A (TTN) XP_011510033.1:p.Arg23624His
XM_017004819.1:c.96914G>A (TTN) XP_016860308.1:p.Arg32305His
XM_017004820.1:c.92312G>A (TTN) XP_016860309.1:p.Arg30771His
XM_017004821.1:c.92309G>A (TTN) XP_016860310.1:p.Arg30770His
XM_017004822.1:c.89351G>A (TTN) XP_016860311.1:p.Arg29784His
XM_017004823.1:c.70967G>A (TTN) XP_016860312.1:p.Arg23656His
XM_024453094.1:c.92462G>A (TTN) XP_024308862.1:p.Arg30821His
XM_024453095.1:c.92459G>A (TTN) XP_024308863.1:p.Arg30820His
XM_024453096.1:c.91892G>A (TTN) XP_024308864.1:p.Arg30631His
XM_024453097.1:c.89234G>A (TTN) XP_024308865.1:p.Arg29745His
XM_024453098.1:c.89153G>A (TTN) XP_024308866.1:p.Arg29718His
XM_024453099.1:c.70916G>A (TTN) XP_024308867.1:p.Arg23639His
XM_024453100.1:c.60770G>A (TTN) XP_024308868.1:p.Arg20257His