Canonical Allele Identifier: CA349398221

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100234G>A (TTN) ENSP00000343764.6:p.Asp33412Asn
ENST00000342175.11:c.81319G>A (TTN) ENSP00000340554.6:p.Asp27107Asn
ENST00000359218.10:c.81118G>A (TTN) ENSP00000352154.5:p.Asp27040Asn
ENST00000342175.10:c.81319G>A (TTN) ENSP00000340554.6:p.Asp27107Asn
ENST00000342992.10:c.100234G>A (TTN) ENSP00000343764.6:p.Asp33412Asn
ENST00000359218.9:c.81118G>A (TTN) ENSP00000352154.5:p.Asp27040Asn
ENST00000460472.6:c.80743G>A (TTN) ENSP00000434586.1:p.Asp26915Asn
ENST00000589042.5:c.107938G>A (TTN) MANE Select ENSP00000467141.1:p.Asp35980Asn
ENST00000591111.5:c.103015G>A (TTN) ENSP00000465570.1:p.Asp34339Asn
ENST00000615779.4:c.103015G>A (TTN) ENSP00000483597.1:p.Asp34339Asn
NM_001256850.1:c.103015G>A (TTN) NP_001243779.1:p.Asp34339Asn
NM_001267550.2:c.107938G>A (TTN) MANE Select NP_001254479.2:p.Asp35980Asn
NM_003319.4:c.80743G>A (TTN) NP_003310.4:p.Asp26915Asn
NM_133378.4:c.100234G>A (TTN) NP_596869.4:p.Asp33412Asn
NM_133432.3:c.81118G>A (TTN) NP_597676.3:p.Asp27040Asn
NM_133437.4:c.81319G>A (TTN) NP_597681.4:p.Asp27107Asn
NR_038271.1:n.446+3414C>T (TTN-AS1)
NR_038272.1:n.219+3414C>T (TTN-AS1)
XM_011511729.1:c.107035G>A (TTN) XP_011510031.1:p.Asp35679Asn
XM_011511730.1:c.80929G>A (TTN) XP_011510032.1:p.Asp26977Asn
XM_011511731.1:c.80788G>A (TTN) XP_011510033.1:p.Asp26930Asn
XM_017004819.1:c.106831G>A (TTN) XP_016860308.1:p.Asp35611Asn
XM_017004820.1:c.102229G>A (TTN) XP_016860309.1:p.Asp34077Asn
XM_017004821.1:c.102226G>A (TTN) XP_016860310.1:p.Asp34076Asn
XM_017004822.1:c.99268G>A (TTN) XP_016860311.1:p.Asp33090Asn
XM_017004823.1:c.80884G>A (TTN) XP_016860312.1:p.Asp26962Asn
XM_024453094.1:c.102379G>A (TTN) XP_024308862.1:p.Asp34127Asn
XM_024453095.1:c.102376G>A (TTN) XP_024308863.1:p.Asp34126Asn
XM_024453096.1:c.101809G>A (TTN) XP_024308864.1:p.Asp33937Asn
XM_024453097.1:c.99151G>A (TTN) XP_024308865.1:p.Asp33051Asn
XM_024453098.1:c.99070G>A (TTN) XP_024308866.1:p.Asp33024Asn
XM_024453099.1:c.80833G>A (TTN) XP_024308867.1:p.Asp26945Asn
XM_024453100.1:c.70687G>A (TTN) XP_024308868.1:p.Asp23563Asn