Canonical Allele Identifier: CA349398218

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527050C>A , CM000664.2:g.178527050C>A GRCh38
NC_000002.11:g.179391777C>A , CM000664.1:g.179391777C>A GRCh37
NC_000002.10:g.179100023C>A NCBI36
NG_011618.3:g.308753G>T , LRG_391:g.308753G>T
NG_051363.1:g.9224C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100234G>T (TTN) ENSP00000343764.6:p.Asp33412Tyr
ENST00000342175.11:c.81319G>T (TTN) ENSP00000340554.6:p.Asp27107Tyr
ENST00000359218.10:c.81118G>T (TTN) ENSP00000352154.5:p.Asp27040Tyr
ENST00000342175.10:c.81319G>T (TTN) ENSP00000340554.6:p.Asp27107Tyr
ENST00000342992.10:c.100234G>T (TTN) ENSP00000343764.6:p.Asp33412Tyr
ENST00000359218.9:c.81118G>T (TTN) ENSP00000352154.5:p.Asp27040Tyr
ENST00000460472.6:c.80743G>T (TTN) ENSP00000434586.1:p.Asp26915Tyr
ENST00000589042.5:c.107938G>T (TTN) MANE Select ENSP00000467141.1:p.Asp35980Tyr
ENST00000591111.5:c.103015G>T (TTN) ENSP00000465570.1:p.Asp34339Tyr
ENST00000615779.4:c.103015G>T (TTN) ENSP00000483597.1:p.Asp34339Tyr
NM_001256850.1:c.103015G>T (TTN) NP_001243779.1:p.Asp34339Tyr
NM_001267550.2:c.107938G>T (TTN) MANE Select NP_001254479.2:p.Asp35980Tyr
NM_003319.4:c.80743G>T (TTN) NP_003310.4:p.Asp26915Tyr
NM_133378.4:c.100234G>T (TTN) NP_596869.4:p.Asp33412Tyr
NM_133432.3:c.81118G>T (TTN) NP_597676.3:p.Asp27040Tyr
NM_133437.4:c.81319G>T (TTN) NP_597681.4:p.Asp27107Tyr
NR_038271.1:n.446+3414C>A (TTN-AS1)
NR_038272.1:n.219+3414C>A (TTN-AS1)
XM_011511729.1:c.107035G>T (TTN) XP_011510031.1:p.Asp35679Tyr
XM_011511730.1:c.80929G>T (TTN) XP_011510032.1:p.Asp26977Tyr
XM_011511731.1:c.80788G>T (TTN) XP_011510033.1:p.Asp26930Tyr
XM_017004819.1:c.106831G>T (TTN) XP_016860308.1:p.Asp35611Tyr
XM_017004820.1:c.102229G>T (TTN) XP_016860309.1:p.Asp34077Tyr
XM_017004821.1:c.102226G>T (TTN) XP_016860310.1:p.Asp34076Tyr
XM_017004822.1:c.99268G>T (TTN) XP_016860311.1:p.Asp33090Tyr
XM_017004823.1:c.80884G>T (TTN) XP_016860312.1:p.Asp26962Tyr
XM_024453094.1:c.102379G>T (TTN) XP_024308862.1:p.Asp34127Tyr
XM_024453095.1:c.102376G>T (TTN) XP_024308863.1:p.Asp34126Tyr
XM_024453096.1:c.101809G>T (TTN) XP_024308864.1:p.Asp33937Tyr
XM_024453097.1:c.99151G>T (TTN) XP_024308865.1:p.Asp33051Tyr
XM_024453098.1:c.99070G>T (TTN) XP_024308866.1:p.Asp33024Tyr
XM_024453099.1:c.80833G>T (TTN) XP_024308867.1:p.Asp26945Tyr
XM_024453100.1:c.70687G>T (TTN) XP_024308868.1:p.Asp23563Tyr