Canonical Allele Identifier: CA284397

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178529113C>T , CM000664.2:g.178529113C>T GRCh38
NC_000002.11:g.179393840C>T , CM000664.1:g.179393840C>T GRCh37
NC_000002.10:g.179102086C>T NCBI36
NG_011618.3:g.306690G>A , LRG_391:g.306690G>A
NG_051363.1:g.11287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98934G>A (TTN) ENSP00000343764.6:p.Arg32978=
ENST00000342175.11:c.80019G>A (TTN) ENSP00000340554.6:p.Arg26673=
ENST00000359218.10:c.79818G>A (TTN) ENSP00000352154.5:p.Arg26606=
ENST00000342175.10:c.80019G>A (TTN) ENSP00000340554.6:p.Arg26673=
ENST00000342992.10:c.98934G>A (TTN) ENSP00000343764.6:p.Arg32978=
ENST00000359218.9:c.79818G>A (TTN) ENSP00000352154.5:p.Arg26606=
ENST00000460472.6:c.79443G>A (TTN) ENSP00000434586.1:p.Arg26481=
ENST00000589042.5:c.106638G>A (TTN) MANE Select ENSP00000467141.1:p.Arg35546=
ENST00000591111.5:c.101715G>A (TTN) ENSP00000465570.1:p.Arg33905=
ENST00000615779.4:c.101715G>A (TTN) ENSP00000483597.1:p.Arg33905=
NM_001256850.1:c.101715G>A (TTN) NP_001243779.1:p.Arg33905=
NM_001267550.2:c.106638G>A (TTN) MANE Select NP_001254479.2:p.Arg35546=
NM_003319.4:c.79443G>A (TTN) NP_003310.4:p.Arg26481=
NM_133378.4:c.98934G>A (TTN) NP_596869.4:p.Arg32978=
NM_133432.3:c.79818G>A (TTN) NP_597676.3:p.Arg26606=
NM_133437.4:c.80019G>A (TTN) NP_597681.4:p.Arg26673=
NR_038271.1:n.446+5477C>T (TTN-AS1)
NR_038272.1:n.219+5477C>T (TTN-AS1)
XM_011511729.1:c.105735G>A (TTN) XP_011510031.1:p.Arg35245=
XM_011511730.1:c.79629G>A (TTN) XP_011510032.1:p.Arg26543=
XM_011511731.1:c.79488G>A (TTN) XP_011510033.1:p.Arg26496=
XM_017004819.1:c.105531G>A (TTN) XP_016860308.1:p.Arg35177=
XM_017004820.1:c.100929G>A (TTN) XP_016860309.1:p.Arg33643=
XM_017004821.1:c.100926G>A (TTN) XP_016860310.1:p.Arg33642=
XM_017004822.1:c.97968G>A (TTN) XP_016860311.1:p.Arg32656=
XM_017004823.1:c.79584G>A (TTN) XP_016860312.1:p.Arg26528=
XM_024453094.1:c.101079G>A (TTN) XP_024308862.1:p.Arg33693=
XM_024453095.1:c.101076G>A (TTN) XP_024308863.1:p.Arg33692=
XM_024453096.1:c.100509G>A (TTN) XP_024308864.1:p.Arg33503=
XM_024453097.1:c.97851G>A (TTN) XP_024308865.1:p.Arg32617=
XM_024453098.1:c.97770G>A (TTN) XP_024308866.1:p.Arg32590=
XM_024453099.1:c.79533G>A (TTN) XP_024308867.1:p.Arg26511=
XM_024453100.1:c.69387G>A (TTN) XP_024308868.1:p.Arg23129=