Canonical Allele Identifier: CA349607257
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614551A>T , CM000664.2:g.178614551A>T GRCh38
NC_000002.11:g.179479278A>T , CM000664.1:g.179479278A>T GRCh37
NC_000002.10:g.179187523A>T NCBI36
NG_011618.3:g.221252T>A , LRG_391:g.221252T>A
NG_051363.1:g.96725A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41259T>A (TTN) ENSP00000343764.6:p.Ser13753Arg
ENST00000342175.11:c.22344T>A (TTN) ENSP00000340554.6:p.Ser7448Arg
ENST00000359218.10:c.22143T>A (TTN) ENSP00000352154.5:p.Ser7381Arg
ENST00000342175.10:c.22344T>A (TTN) ENSP00000340554.6:p.Ser7448Arg
ENST00000342992.10:c.41259T>A (TTN) ENSP00000343764.6:p.Ser13753Arg
ENST00000359218.9:c.22143T>A (TTN) ENSP00000352154.5:p.Ser7381Arg
ENST00000460472.6:c.21768T>A (TTN) ENSP00000434586.1:p.Ser7256Arg
ENST00000589042.5:c.48963T>A (TTN) MANE Select ENSP00000467141.1:p.Ser16321Arg
ENST00000591111.5:c.44040T>A (TTN) ENSP00000465570.1:p.Ser14680Arg
ENST00000615779.4:c.44040T>A (TTN) ENSP00000483597.1:p.Ser14680Arg
NM_001256850.1:c.44040T>A (TTN) NP_001243779.1:p.Ser14680Arg
NM_001267550.2:c.48963T>A (TTN) MANE Select NP_001254479.2:p.Ser16321Arg
NM_003319.4:c.21768T>A (TTN) NP_003310.4:p.Ser7256Arg
NM_133378.4:c.41259T>A (TTN) NP_596869.4:p.Ser13753Arg
NM_133432.3:c.22143T>A (TTN) NP_597676.3:p.Ser7381Arg
NM_133437.4:c.22344T>A (TTN) NP_597681.4:p.Ser7448Arg
NR_038271.1:n.1299A>T (TTN-AS1)
XM_011511729.1:c.48060T>A (TTN) XP_011510031.1:p.Ser16020Arg
XM_011511730.1:c.21954T>A (TTN) XP_011510032.1:p.Ser7318Arg
XM_011511731.1:c.21813T>A (TTN) XP_011510033.1:p.Ser7271Arg
XM_017004819.1:c.47856T>A (TTN) XP_016860308.1:p.Ser15952Arg
XM_017004820.1:c.43254T>A (TTN) XP_016860309.1:p.Ser14418Arg
XM_017004821.1:c.43251T>A (TTN) XP_016860310.1:p.Ser14417Arg
XM_017004822.1:c.40293T>A (TTN) XP_016860311.1:p.Ser13431Arg
XM_017004823.1:c.21909T>A (TTN) XP_016860312.1:p.Ser7303Arg
XM_024453094.1:c.43404T>A (TTN) XP_024308862.1:p.Ser14468Arg
XM_024453095.1:c.43401T>A (TTN) XP_024308863.1:p.Ser14467Arg
XM_024453096.1:c.42834T>A (TTN) XP_024308864.1:p.Ser14278Arg
XM_024453097.1:c.40176T>A (TTN) XP_024308865.1:p.Ser13392Arg
XM_024453098.1:c.40095T>A (TTN) XP_024308866.1:p.Ser13365Arg
XM_024453099.1:c.21858T>A (TTN) XP_024308867.1:p.Ser7286Arg
XM_024453100.1:c.11712T>A (TTN) XP_024308868.1:p.Ser3904Arg