Canonical Allele Identifier: CA1310523375

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546757C= , CM000664.2:g.178546757C= GRCh38
NC_000002.11:g.179411484C= , CM000664.1:g.179411484C= GRCh37
NC_000002.10:g.179119730C= NCBI36
NG_011618.3:g.289046G= , LRG_391:g.289046G=
NG_051363.1:g.28931C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86967G= (TTN) ENSP00000343764.6:p.Leu28989=
ENST00000342175.11:c.68052G= (TTN) ENSP00000340554.6:p.Leu22684=
ENST00000359218.10:c.67851G= (TTN) ENSP00000352154.5:p.Leu22617=
ENST00000342175.10:c.68052G= (TTN) ENSP00000340554.6:p.Leu22684=
ENST00000342992.10:c.86967G= (TTN) ENSP00000343764.6:p.Leu28989=
ENST00000359218.9:c.67851G= (TTN) ENSP00000352154.5:p.Leu22617=
ENST00000460472.6:c.67476G= (TTN) ENSP00000434586.1:p.Leu22492=
ENST00000589042.5:c.94671G= (TTN) MANE Select ENSP00000467141.1:p.Leu31557=
ENST00000591111.5:c.89748G= (TTN) ENSP00000465570.1:p.Leu29916=
ENST00000615779.4:c.89748G= (TTN) ENSP00000483597.1:p.Leu29916=
NM_001256850.1:c.89748G= (TTN) NP_001243779.1:p.Leu29916=
NM_001267550.2:c.94671G= (TTN) MANE Select NP_001254479.2:p.Leu31557=
NM_003319.4:c.67476G= (TTN) NP_003310.4:p.Leu22492=
NM_133378.4:c.86967G= (TTN) NP_596869.4:p.Leu28989=
NM_133432.3:c.67851G= (TTN) NP_597676.3:p.Leu22617=
NM_133437.4:c.68052G= (TTN) NP_597681.4:p.Leu22684=
NR_038271.1:n.446+23121C= (TTN-AS1)
NR_038272.1:n.2043+4396C= (TTN-AS1)
XM_011511729.1:c.93768G= (TTN) XP_011510031.1:p.Leu31256=
XM_011511730.1:c.67662G= (TTN) XP_011510032.1:p.Leu22554=
XM_011511731.1:c.67521G= (TTN) XP_011510033.1:p.Leu22507=
XM_017004819.1:c.93564G= (TTN) XP_016860308.1:p.Leu31188=
XM_017004820.1:c.88962G= (TTN) XP_016860309.1:p.Leu29654=
XM_017004821.1:c.88959G= (TTN) XP_016860310.1:p.Leu29653=
XM_017004822.1:c.86001G= (TTN) XP_016860311.1:p.Leu28667=
XM_017004823.1:c.67617G= (TTN) XP_016860312.1:p.Leu22539=
XM_024453094.1:c.89112G= (TTN) XP_024308862.1:p.Leu29704=
XM_024453095.1:c.89109G= (TTN) XP_024308863.1:p.Leu29703=
XM_024453096.1:c.88542G= (TTN) XP_024308864.1:p.Leu29514=
XM_024453097.1:c.85884G= (TTN) XP_024308865.1:p.Leu28628=
XM_024453098.1:c.85803G= (TTN) XP_024308866.1:p.Leu28601=
XM_024453099.1:c.67566G= (TTN) XP_024308867.1:p.Leu22522=
XM_024453100.1:c.57420G= (TTN) XP_024308868.1:p.Leu19140=