Canonical Allele Identifier: CA349411728

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532175C>A , CM000664.2:g.178532175C>A GRCh38
NC_000002.11:g.179396902C>A , CM000664.1:g.179396902C>A GRCh37
NC_000002.10:g.179105148C>A NCBI36
NG_011618.3:g.303628G>T , LRG_391:g.303628G>T
NG_051363.1:g.14349C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96736G>T (TTN) ENSP00000343764.6:p.Glu32246Ter
ENST00000342175.11:c.77821G>T (TTN) ENSP00000340554.6:p.Glu25941Ter
ENST00000359218.10:c.77620G>T (TTN) ENSP00000352154.5:p.Glu25874Ter
ENST00000342175.10:c.77821G>T (TTN) ENSP00000340554.6:p.Glu25941Ter
ENST00000342992.10:c.96736G>T (TTN) ENSP00000343764.6:p.Glu32246Ter
ENST00000359218.9:c.77620G>T (TTN) ENSP00000352154.5:p.Glu25874Ter
ENST00000460472.6:c.77245G>T (TTN) ENSP00000434586.1:p.Glu25749Ter
ENST00000589042.5:c.104440G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34814Ter
ENST00000591111.5:c.99517G>T (TTN) ENSP00000465570.1:p.Glu33173Ter
ENST00000615779.4:c.99517G>T (TTN) ENSP00000483597.1:p.Glu33173Ter
NM_001256850.1:c.99517G>T (TTN) NP_001243779.1:p.Glu33173Ter
NM_001267550.2:c.104440G>T (TTN) MANE Select NP_001254479.2:p.Glu34814Ter
NM_003319.4:c.77245G>T (TTN) NP_003310.4:p.Glu25749Ter
NM_133378.4:c.96736G>T (TTN) NP_596869.4:p.Glu32246Ter
NM_133432.3:c.77620G>T (TTN) NP_597676.3:p.Glu25874Ter
NM_133437.4:c.77821G>T (TTN) NP_597681.4:p.Glu25941Ter
NR_038271.1:n.446+8539C>A (TTN-AS1)
NR_038272.1:n.220-3557C>A (TTN-AS1)
XM_011511729.1:c.103537G>T (TTN) XP_011510031.1:p.Glu34513Ter
XM_011511730.1:c.77431G>T (TTN) XP_011510032.1:p.Glu25811Ter
XM_011511731.1:c.77290G>T (TTN) XP_011510033.1:p.Glu25764Ter
XM_017004819.1:c.103333G>T (TTN) XP_016860308.1:p.Glu34445Ter
XM_017004820.1:c.98731G>T (TTN) XP_016860309.1:p.Glu32911Ter
XM_017004821.1:c.98728G>T (TTN) XP_016860310.1:p.Glu32910Ter
XM_017004822.1:c.95770G>T (TTN) XP_016860311.1:p.Glu31924Ter
XM_017004823.1:c.77386G>T (TTN) XP_016860312.1:p.Glu25796Ter
XM_024453094.1:c.98881G>T (TTN) XP_024308862.1:p.Glu32961Ter
XM_024453095.1:c.98878G>T (TTN) XP_024308863.1:p.Glu32960Ter
XM_024453096.1:c.98311G>T (TTN) XP_024308864.1:p.Glu32771Ter
XM_024453097.1:c.95653G>T (TTN) XP_024308865.1:p.Glu31885Ter
XM_024453098.1:c.95572G>T (TTN) XP_024308866.1:p.Glu31858Ter
XM_024453099.1:c.77335G>T (TTN) XP_024308867.1:p.Glu25779Ter
XM_024453100.1:c.67189G>T (TTN) XP_024308868.1:p.Glu22397Ter