Canonical Allele Identifier: CA349568308

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607590G>A , CM000664.2:g.178607590G>A GRCh38
NC_000002.11:g.179472317G>A , CM000664.1:g.179472317G>A GRCh37
NC_000002.10:g.179180562G>A NCBI36
NG_011618.3:g.228213C>T , LRG_391:g.228213C>T
NG_051363.1:g.89764G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.45394C>T (TTN) ENSP00000343764.6:p.Pro15132Ser
ENST00000342175.11:c.26479C>T (TTN) ENSP00000340554.6:p.Pro8827Ser
ENST00000359218.10:c.26278C>T (TTN) ENSP00000352154.5:p.Pro8760Ser
ENST00000342175.10:c.26479C>T (TTN) ENSP00000340554.6:p.Pro8827Ser
ENST00000342992.10:c.45394C>T (TTN) ENSP00000343764.6:p.Pro15132Ser
ENST00000359218.9:c.26278C>T (TTN) ENSP00000352154.5:p.Pro8760Ser
ENST00000460472.6:c.25903C>T (TTN) ENSP00000434586.1:p.Pro8635Ser
ENST00000589042.5:c.53098C>T (TTN) MANE Select ENSP00000467141.1:p.Pro17700Ser
ENST00000591111.5:c.48175C>T (TTN) ENSP00000465570.1:p.Pro16059Ser
ENST00000615779.4:c.48175C>T (TTN) ENSP00000483597.1:p.Pro16059Ser
NM_001256850.1:c.48175C>T (TTN) NP_001243779.1:p.Pro16059Ser
NM_001267550.2:c.53098C>T (TTN) MANE Select NP_001254479.2:p.Pro17700Ser
NM_003319.4:c.25903C>T (TTN) NP_003310.4:p.Pro8635Ser
NM_133378.4:c.45394C>T (TTN) NP_596869.4:p.Pro15132Ser
NM_133432.3:c.26278C>T (TTN) NP_597676.3:p.Pro8760Ser
NM_133437.4:c.26479C>T (TTN) NP_597681.4:p.Pro8827Ser
NR_038271.1:n.683-577G>A (TTN-AS1)
XM_011511729.1:c.52195C>T (TTN) XP_011510031.1:p.Pro17399Ser
XM_011511730.1:c.26089C>T (TTN) XP_011510032.1:p.Pro8697Ser
XM_011511731.1:c.25948C>T (TTN) XP_011510033.1:p.Pro8650Ser
XM_017004819.1:c.51991C>T (TTN) XP_016860308.1:p.Pro17331Ser
XM_017004820.1:c.47389C>T (TTN) XP_016860309.1:p.Pro15797Ser
XM_017004821.1:c.47386C>T (TTN) XP_016860310.1:p.Pro15796Ser
XM_017004822.1:c.44428C>T (TTN) XP_016860311.1:p.Pro14810Ser
XM_017004823.1:c.26044C>T (TTN) XP_016860312.1:p.Pro8682Ser
XM_024453094.1:c.47539C>T (TTN) XP_024308862.1:p.Pro15847Ser
XM_024453095.1:c.47536C>T (TTN) XP_024308863.1:p.Pro15846Ser
XM_024453096.1:c.46969C>T (TTN) XP_024308864.1:p.Pro15657Ser
XM_024453097.1:c.44311C>T (TTN) XP_024308865.1:p.Pro14771Ser
XM_024453098.1:c.44230C>T (TTN) XP_024308866.1:p.Pro14744Ser
XM_024453099.1:c.25993C>T (TTN) XP_024308867.1:p.Pro8665Ser
XM_024453100.1:c.15847C>T (TTN) XP_024308868.1:p.Pro5283Ser