Canonical Allele Identifier: CA349544885

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559836C>A , CM000664.2:g.178559836C>A GRCh38
NC_000002.11:g.179424563C>A , CM000664.1:g.179424563C>A GRCh37
NC_000002.10:g.179132809C>A NCBI36
NG_011618.3:g.275967G>T , LRG_391:g.275967G>T
NG_051363.1:g.42010C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78592G>T (TTN) ENSP00000343764.6:p.Val26198Phe
ENST00000342175.11:c.59677G>T (TTN) ENSP00000340554.6:p.Val19893Phe
ENST00000359218.10:c.59476G>T (TTN) ENSP00000352154.5:p.Val19826Phe
ENST00000342175.10:c.59677G>T (TTN) ENSP00000340554.6:p.Val19893Phe
ENST00000342992.10:c.78592G>T (TTN) ENSP00000343764.6:p.Val26198Phe
ENST00000359218.9:c.59476G>T (TTN) ENSP00000352154.5:p.Val19826Phe
ENST00000460472.6:c.59101G>T (TTN) ENSP00000434586.1:p.Val19701Phe
ENST00000589042.5:c.86296G>T (TTN) MANE Select ENSP00000467141.1:p.Val28766Phe
ENST00000591111.5:c.81373G>T (TTN) ENSP00000465570.1:p.Val27125Phe
ENST00000615779.4:c.81373G>T (TTN) ENSP00000483597.1:p.Val27125Phe
NM_001256850.1:c.81373G>T (TTN) NP_001243779.1:p.Val27125Phe
NM_001267550.2:c.86296G>T (TTN) MANE Select NP_001254479.2:p.Val28766Phe
NM_003319.4:c.59101G>T (TTN) NP_003310.4:p.Val19701Phe
NM_133378.4:c.78592G>T (TTN) NP_596869.4:p.Val26198Phe
NM_133432.3:c.59476G>T (TTN) NP_597676.3:p.Val19826Phe
NM_133437.4:c.59677G>T (TTN) NP_597681.4:p.Val19893Phe
NR_038271.1:n.447-11464C>A (TTN-AS1)
NR_038272.1:n.2043+17475C>A (TTN-AS1)
XM_011511729.1:c.85393G>T (TTN) XP_011510031.1:p.Val28465Phe
XM_011511730.1:c.59287G>T (TTN) XP_011510032.1:p.Val19763Phe
XM_011511731.1:c.59146G>T (TTN) XP_011510033.1:p.Val19716Phe
XM_017004819.1:c.85189G>T (TTN) XP_016860308.1:p.Val28397Phe
XM_017004820.1:c.80587G>T (TTN) XP_016860309.1:p.Val26863Phe
XM_017004821.1:c.80584G>T (TTN) XP_016860310.1:p.Val26862Phe
XM_017004822.1:c.77626G>T (TTN) XP_016860311.1:p.Val25876Phe
XM_017004823.1:c.59242G>T (TTN) XP_016860312.1:p.Val19748Phe
XM_024453094.1:c.80737G>T (TTN) XP_024308862.1:p.Val26913Phe
XM_024453095.1:c.80734G>T (TTN) XP_024308863.1:p.Val26912Phe
XM_024453096.1:c.80167G>T (TTN) XP_024308864.1:p.Val26723Phe
XM_024453097.1:c.77509G>T (TTN) XP_024308865.1:p.Val25837Phe
XM_024453098.1:c.77428G>T (TTN) XP_024308866.1:p.Val25810Phe
XM_024453099.1:c.59191G>T (TTN) XP_024308867.1:p.Val19731Phe
XM_024453100.1:c.49045G>T (TTN) XP_024308868.1:p.Val16349Phe