Canonical Allele Identifier: CA349407216

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530600C>A , CM000664.2:g.178530600C>A GRCh38
NC_000002.11:g.179395327C>A , CM000664.1:g.179395327C>A GRCh37
NC_000002.10:g.179103573C>A NCBI36
NG_011618.3:g.305203G>T , LRG_391:g.305203G>T
NG_051363.1:g.12774C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98311G>T (TTN) ENSP00000343764.6:p.Asp32771Tyr
ENST00000342175.11:c.79396G>T (TTN) ENSP00000340554.6:p.Asp26466Tyr
ENST00000359218.10:c.79195G>T (TTN) ENSP00000352154.5:p.Asp26399Tyr
ENST00000342175.10:c.79396G>T (TTN) ENSP00000340554.6:p.Asp26466Tyr
ENST00000342992.10:c.98311G>T (TTN) ENSP00000343764.6:p.Asp32771Tyr
ENST00000359218.9:c.79195G>T (TTN) ENSP00000352154.5:p.Asp26399Tyr
ENST00000460472.6:c.78820G>T (TTN) ENSP00000434586.1:p.Asp26274Tyr
ENST00000589042.5:c.106015G>T (TTN) MANE Select ENSP00000467141.1:p.Asp35339Tyr
ENST00000591111.5:c.101092G>T (TTN) ENSP00000465570.1:p.Asp33698Tyr
ENST00000615779.4:c.101092G>T (TTN) ENSP00000483597.1:p.Asp33698Tyr
NM_001256850.1:c.101092G>T (TTN) NP_001243779.1:p.Asp33698Tyr
NM_001267550.2:c.106015G>T (TTN) MANE Select NP_001254479.2:p.Asp35339Tyr
NM_003319.4:c.78820G>T (TTN) NP_003310.4:p.Asp26274Tyr
NM_133378.4:c.98311G>T (TTN) NP_596869.4:p.Asp32771Tyr
NM_133432.3:c.79195G>T (TTN) NP_597676.3:p.Asp26399Tyr
NM_133437.4:c.79396G>T (TTN) NP_597681.4:p.Asp26466Tyr
NR_038271.1:n.446+6964C>A (TTN-AS1)
NR_038272.1:n.220-5132C>A (TTN-AS1)
XM_011511729.1:c.105112G>T (TTN) XP_011510031.1:p.Asp35038Tyr
XM_011511730.1:c.79006G>T (TTN) XP_011510032.1:p.Asp26336Tyr
XM_011511731.1:c.78865G>T (TTN) XP_011510033.1:p.Asp26289Tyr
XM_017004819.1:c.104908G>T (TTN) XP_016860308.1:p.Asp34970Tyr
XM_017004820.1:c.100306G>T (TTN) XP_016860309.1:p.Asp33436Tyr
XM_017004821.1:c.100303G>T (TTN) XP_016860310.1:p.Asp33435Tyr
XM_017004822.1:c.97345G>T (TTN) XP_016860311.1:p.Asp32449Tyr
XM_017004823.1:c.78961G>T (TTN) XP_016860312.1:p.Asp26321Tyr
XM_024453094.1:c.100456G>T (TTN) XP_024308862.1:p.Asp33486Tyr
XM_024453095.1:c.100453G>T (TTN) XP_024308863.1:p.Asp33485Tyr
XM_024453096.1:c.99886G>T (TTN) XP_024308864.1:p.Asp33296Tyr
XM_024453097.1:c.97228G>T (TTN) XP_024308865.1:p.Asp32410Tyr
XM_024453098.1:c.97147G>T (TTN) XP_024308866.1:p.Asp32383Tyr
XM_024453099.1:c.78910G>T (TTN) XP_024308867.1:p.Asp26304Tyr
XM_024453100.1:c.68764G>T (TTN) XP_024308868.1:p.Asp22922Tyr