Canonical Allele Identifier: CA349544858

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559833T>A , CM000664.2:g.178559833T>A GRCh38
NC_000002.11:g.179424560T>A , CM000664.1:g.179424560T>A GRCh37
NC_000002.10:g.179132806T>A NCBI36
NG_011618.3:g.275970A>T , LRG_391:g.275970A>T
NG_051363.1:g.42007T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78595A>T (TTN) ENSP00000343764.6:p.Lys26199Ter
ENST00000342175.11:c.59680A>T (TTN) ENSP00000340554.6:p.Lys19894Ter
ENST00000359218.10:c.59479A>T (TTN) ENSP00000352154.5:p.Lys19827Ter
ENST00000342175.10:c.59680A>T (TTN) ENSP00000340554.6:p.Lys19894Ter
ENST00000342992.10:c.78595A>T (TTN) ENSP00000343764.6:p.Lys26199Ter
ENST00000359218.9:c.59479A>T (TTN) ENSP00000352154.5:p.Lys19827Ter
ENST00000460472.6:c.59104A>T (TTN) ENSP00000434586.1:p.Lys19702Ter
ENST00000589042.5:c.86299A>T (TTN) MANE Select ENSP00000467141.1:p.Lys28767Ter
ENST00000591111.5:c.81376A>T (TTN) ENSP00000465570.1:p.Lys27126Ter
ENST00000615779.4:c.81376A>T (TTN) ENSP00000483597.1:p.Lys27126Ter
NM_001256850.1:c.81376A>T (TTN) NP_001243779.1:p.Lys27126Ter
NM_001267550.2:c.86299A>T (TTN) MANE Select NP_001254479.2:p.Lys28767Ter
NM_003319.4:c.59104A>T (TTN) NP_003310.4:p.Lys19702Ter
NM_133378.4:c.78595A>T (TTN) NP_596869.4:p.Lys26199Ter
NM_133432.3:c.59479A>T (TTN) NP_597676.3:p.Lys19827Ter
NM_133437.4:c.59680A>T (TTN) NP_597681.4:p.Lys19894Ter
NR_038271.1:n.447-11467T>A (TTN-AS1)
NR_038272.1:n.2043+17472T>A (TTN-AS1)
XM_011511729.1:c.85396A>T (TTN) XP_011510031.1:p.Lys28466Ter
XM_011511730.1:c.59290A>T (TTN) XP_011510032.1:p.Lys19764Ter
XM_011511731.1:c.59149A>T (TTN) XP_011510033.1:p.Lys19717Ter
XM_017004819.1:c.85192A>T (TTN) XP_016860308.1:p.Lys28398Ter
XM_017004820.1:c.80590A>T (TTN) XP_016860309.1:p.Lys26864Ter
XM_017004821.1:c.80587A>T (TTN) XP_016860310.1:p.Lys26863Ter
XM_017004822.1:c.77629A>T (TTN) XP_016860311.1:p.Lys25877Ter
XM_017004823.1:c.59245A>T (TTN) XP_016860312.1:p.Lys19749Ter
XM_024453094.1:c.80740A>T (TTN) XP_024308862.1:p.Lys26914Ter
XM_024453095.1:c.80737A>T (TTN) XP_024308863.1:p.Lys26913Ter
XM_024453096.1:c.80170A>T (TTN) XP_024308864.1:p.Lys26724Ter
XM_024453097.1:c.77512A>T (TTN) XP_024308865.1:p.Lys25838Ter
XM_024453098.1:c.77431A>T (TTN) XP_024308866.1:p.Lys25811Ter
XM_024453099.1:c.59194A>T (TTN) XP_024308867.1:p.Lys19732Ter
XM_024453100.1:c.49048A>T (TTN) XP_024308868.1:p.Lys16350Ter