Canonical Allele Identifier: CA16604000

Linked Data

ClinVar Variation Id: 389537
ClinVar RCV Id: RCV000433711
dbSNP Id: rs1057523460

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572689G>T , CM000664.2:g.178572689G>T GRCh38
NC_000002.11:g.179437416G>T , CM000664.1:g.179437416G>T GRCh37
NC_000002.10:g.179145662G>T NCBI36
NG_011618.3:g.263114C>A , LRG_391:g.263114C>A
NG_051363.1:g.54863G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.65739C>A (TTN) ENSP00000343764.6:p.Tyr21913Ter
ENST00000342175.11:c.46824C>A (TTN) ENSP00000340554.6:p.Tyr15608Ter
ENST00000359218.10:c.46623C>A (TTN) ENSP00000352154.5:p.Tyr15541Ter
ENST00000342175.10:c.46824C>A (TTN) ENSP00000340554.6:p.Tyr15608Ter
ENST00000342992.10:c.65739C>A (TTN) ENSP00000343764.6:p.Tyr21913Ter
ENST00000359218.9:c.46623C>A (TTN) ENSP00000352154.5:p.Tyr15541Ter
ENST00000460472.6:c.46248C>A (TTN) ENSP00000434586.1:p.Tyr15416Ter
ENST00000589042.5:c.73443C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr24481Ter
ENST00000591111.5:c.68520C>A (TTN) ENSP00000465570.1:p.Tyr22840Ter
ENST00000615779.4:c.68520C>A (TTN) ENSP00000483597.1:p.Tyr22840Ter
NM_001256850.1:c.68520C>A (TTN) NP_001243779.1:p.Tyr22840Ter
NM_001267550.2:c.73443C>A (TTN) MANE Select NP_001254479.2:p.Tyr24481Ter
NM_003319.4:c.46248C>A (TTN) NP_003310.4:p.Tyr15416Ter
NM_133378.4:c.65739C>A (TTN) NP_596869.4:p.Tyr21913Ter
NM_133432.3:c.46623C>A (TTN) NP_597676.3:p.Tyr15541Ter
NM_133437.4:c.46824C>A (TTN) NP_597681.4:p.Tyr15608Ter
NR_038271.1:n.596+1240G>T (TTN-AS1)
NR_038272.1:n.2044-9883G>T (TTN-AS1)
XM_011511729.1:c.72540C>A (TTN) XP_011510031.1:p.Tyr24180Ter
XM_011511730.1:c.46434C>A (TTN) XP_011510032.1:p.Tyr15478Ter
XM_011511731.1:c.46293C>A (TTN) XP_011510033.1:p.Tyr15431Ter
XM_017004819.1:c.72336C>A (TTN) XP_016860308.1:p.Tyr24112Ter
XM_017004820.1:c.67734C>A (TTN) XP_016860309.1:p.Tyr22578Ter
XM_017004821.1:c.67731C>A (TTN) XP_016860310.1:p.Tyr22577Ter
XM_017004822.1:c.64773C>A (TTN) XP_016860311.1:p.Tyr21591Ter
XM_017004823.1:c.46389C>A (TTN) XP_016860312.1:p.Tyr15463Ter
XM_024453094.1:c.67884C>A (TTN) XP_024308862.1:p.Tyr22628Ter
XM_024453095.1:c.67881C>A (TTN) XP_024308863.1:p.Tyr22627Ter
XM_024453096.1:c.67314C>A (TTN) XP_024308864.1:p.Tyr22438Ter
XM_024453097.1:c.64656C>A (TTN) XP_024308865.1:p.Tyr21552Ter
XM_024453098.1:c.64575C>A (TTN) XP_024308866.1:p.Tyr21525Ter
XM_024453099.1:c.46338C>A (TTN) XP_024308867.1:p.Tyr15446Ter
XM_024453100.1:c.36192C>A (TTN) XP_024308868.1:p.Tyr12064Ter