Canonical Allele Identifier: CA349503352

Linked Data

dbSNP Id: rs1157754199

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551741T>A , CM000664.2:g.178551741T>A GRCh38
NC_000002.11:g.179416468T>A , CM000664.1:g.179416468T>A GRCh37
NC_000002.10:g.179124714T>A NCBI36
NG_011618.3:g.284062A>T , LRG_391:g.284062A>T
NG_051363.1:g.33915T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83455A>T (TTN) ENSP00000343764.6:p.Thr27819Ser
ENST00000342175.11:c.64540A>T (TTN) ENSP00000340554.6:p.Thr21514Ser
ENST00000359218.10:c.64339A>T (TTN) ENSP00000352154.5:p.Thr21447Ser
ENST00000342175.10:c.64540A>T (TTN) ENSP00000340554.6:p.Thr21514Ser
ENST00000342992.10:c.83455A>T (TTN) ENSP00000343764.6:p.Thr27819Ser
ENST00000359218.9:c.64339A>T (TTN) ENSP00000352154.5:p.Thr21447Ser
ENST00000460472.6:c.63964A>T (TTN) ENSP00000434586.1:p.Thr21322Ser
ENST00000589042.5:c.91159A>T (TTN) MANE Select ENSP00000467141.1:p.Thr30387Ser
ENST00000591111.5:c.86236A>T (TTN) ENSP00000465570.1:p.Thr28746Ser
ENST00000615779.4:c.86236A>T (TTN) ENSP00000483597.1:p.Thr28746Ser
NM_001256850.1:c.86236A>T (TTN) NP_001243779.1:p.Thr28746Ser
NM_001267550.2:c.91159A>T (TTN) MANE Select NP_001254479.2:p.Thr30387Ser
NM_003319.4:c.63964A>T (TTN) NP_003310.4:p.Thr21322Ser
NM_133378.4:c.83455A>T (TTN) NP_596869.4:p.Thr27819Ser
NM_133432.3:c.64339A>T (TTN) NP_597676.3:p.Thr21447Ser
NM_133437.4:c.64540A>T (TTN) NP_597681.4:p.Thr21514Ser
NR_038271.1:n.447-19559T>A (TTN-AS1)
NR_038272.1:n.2043+9380T>A (TTN-AS1)
XM_011511729.1:c.90256A>T (TTN) XP_011510031.1:p.Thr30086Ser
XM_011511730.1:c.64150A>T (TTN) XP_011510032.1:p.Thr21384Ser
XM_011511731.1:c.64009A>T (TTN) XP_011510033.1:p.Thr21337Ser
XM_017004819.1:c.90052A>T (TTN) XP_016860308.1:p.Thr30018Ser
XM_017004820.1:c.85450A>T (TTN) XP_016860309.1:p.Thr28484Ser
XM_017004821.1:c.85447A>T (TTN) XP_016860310.1:p.Thr28483Ser
XM_017004822.1:c.82489A>T (TTN) XP_016860311.1:p.Thr27497Ser
XM_017004823.1:c.64105A>T (TTN) XP_016860312.1:p.Thr21369Ser
XM_024453094.1:c.85600A>T (TTN) XP_024308862.1:p.Thr28534Ser
XM_024453095.1:c.85597A>T (TTN) XP_024308863.1:p.Thr28533Ser
XM_024453096.1:c.85030A>T (TTN) XP_024308864.1:p.Thr28344Ser
XM_024453097.1:c.82372A>T (TTN) XP_024308865.1:p.Thr27458Ser
XM_024453098.1:c.82291A>T (TTN) XP_024308866.1:p.Thr27431Ser
XM_024453099.1:c.64054A>T (TTN) XP_024308867.1:p.Thr21352Ser
XM_024453100.1:c.53908A>T (TTN) XP_024308868.1:p.Thr17970Ser