Canonical Allele Identifier: CA349411898

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532250C>A , CM000664.2:g.178532250C>A GRCh38
NC_000002.11:g.179396977C>A , CM000664.1:g.179396977C>A GRCh37
NC_000002.10:g.179105223C>A NCBI36
NG_011618.3:g.303553G>T , LRG_391:g.303553G>T
NG_051363.1:g.14424C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96661G>T (TTN) ENSP00000343764.6:p.Glu32221Ter
ENST00000342175.11:c.77746G>T (TTN) ENSP00000340554.6:p.Glu25916Ter
ENST00000359218.10:c.77545G>T (TTN) ENSP00000352154.5:p.Glu25849Ter
ENST00000342175.10:c.77746G>T (TTN) ENSP00000340554.6:p.Glu25916Ter
ENST00000342992.10:c.96661G>T (TTN) ENSP00000343764.6:p.Glu32221Ter
ENST00000359218.9:c.77545G>T (TTN) ENSP00000352154.5:p.Glu25849Ter
ENST00000460472.6:c.77170G>T (TTN) ENSP00000434586.1:p.Glu25724Ter
ENST00000589042.5:c.104365G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34789Ter
ENST00000591111.5:c.99442G>T (TTN) ENSP00000465570.1:p.Glu33148Ter
ENST00000615779.4:c.99442G>T (TTN) ENSP00000483597.1:p.Glu33148Ter
NM_001256850.1:c.99442G>T (TTN) NP_001243779.1:p.Glu33148Ter
NM_001267550.2:c.104365G>T (TTN) MANE Select NP_001254479.2:p.Glu34789Ter
NM_003319.4:c.77170G>T (TTN) NP_003310.4:p.Glu25724Ter
NM_133378.4:c.96661G>T (TTN) NP_596869.4:p.Glu32221Ter
NM_133432.3:c.77545G>T (TTN) NP_597676.3:p.Glu25849Ter
NM_133437.4:c.77746G>T (TTN) NP_597681.4:p.Glu25916Ter
NR_038271.1:n.446+8614C>A (TTN-AS1)
NR_038272.1:n.220-3482C>A (TTN-AS1)
XM_011511729.1:c.103462G>T (TTN) XP_011510031.1:p.Glu34488Ter
XM_011511730.1:c.77356G>T (TTN) XP_011510032.1:p.Glu25786Ter
XM_011511731.1:c.77215G>T (TTN) XP_011510033.1:p.Glu25739Ter
XM_017004819.1:c.103258G>T (TTN) XP_016860308.1:p.Glu34420Ter
XM_017004820.1:c.98656G>T (TTN) XP_016860309.1:p.Glu32886Ter
XM_017004821.1:c.98653G>T (TTN) XP_016860310.1:p.Glu32885Ter
XM_017004822.1:c.95695G>T (TTN) XP_016860311.1:p.Glu31899Ter
XM_017004823.1:c.77311G>T (TTN) XP_016860312.1:p.Glu25771Ter
XM_024453094.1:c.98806G>T (TTN) XP_024308862.1:p.Glu32936Ter
XM_024453095.1:c.98803G>T (TTN) XP_024308863.1:p.Glu32935Ter
XM_024453096.1:c.98236G>T (TTN) XP_024308864.1:p.Glu32746Ter
XM_024453097.1:c.95578G>T (TTN) XP_024308865.1:p.Glu31860Ter
XM_024453098.1:c.95497G>T (TTN) XP_024308866.1:p.Glu31833Ter
XM_024453099.1:c.77260G>T (TTN) XP_024308867.1:p.Glu25754Ter
XM_024453100.1:c.67114G>T (TTN) XP_024308868.1:p.Glu22372Ter