Canonical Allele Identifier: CA349428142

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537695T>G , CM000664.2:g.178537695T>G GRCh38
NC_000002.11:g.179402422T>G , CM000664.1:g.179402422T>G GRCh37
NC_000002.10:g.179110668T>G NCBI36
NG_011618.3:g.298108A>C , LRG_391:g.298108A>C
NG_051363.1:g.19869T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91808A>C (TTN) ENSP00000343764.6:p.Tyr30603Ser
ENST00000342175.11:c.72893A>C (TTN) ENSP00000340554.6:p.Tyr24298Ser
ENST00000359218.10:c.72692A>C (TTN) ENSP00000352154.5:p.Tyr24231Ser
ENST00000342175.10:c.72893A>C (TTN) ENSP00000340554.6:p.Tyr24298Ser
ENST00000342992.10:c.91808A>C (TTN) ENSP00000343764.6:p.Tyr30603Ser
ENST00000359218.9:c.72692A>C (TTN) ENSP00000352154.5:p.Tyr24231Ser
ENST00000460472.6:c.72317A>C (TTN) ENSP00000434586.1:p.Tyr24106Ser
ENST00000589042.5:c.99512A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr33171Ser
ENST00000591111.5:c.94589A>C (TTN) ENSP00000465570.1:p.Tyr31530Ser
ENST00000615779.4:c.94589A>C (TTN) ENSP00000483597.1:p.Tyr31530Ser
NM_001256850.1:c.94589A>C (TTN) NP_001243779.1:p.Tyr31530Ser
NM_001267550.2:c.99512A>C (TTN) MANE Select NP_001254479.2:p.Tyr33171Ser
NM_003319.4:c.72317A>C (TTN) NP_003310.4:p.Tyr24106Ser
NM_133378.4:c.91808A>C (TTN) NP_596869.4:p.Tyr30603Ser
NM_133432.3:c.72692A>C (TTN) NP_597676.3:p.Tyr24231Ser
NM_133437.4:c.72893A>C (TTN) NP_597681.4:p.Tyr24298Ser
NR_038271.1:n.446+14059T>G (TTN-AS1)
NR_038272.1:n.647+4T>G (TTN-AS1)
XM_011511729.1:c.98609A>C (TTN) XP_011510031.1:p.Tyr32870Ser
XM_011511730.1:c.72503A>C (TTN) XP_011510032.1:p.Tyr24168Ser
XM_011511731.1:c.72362A>C (TTN) XP_011510033.1:p.Tyr24121Ser
XM_017004819.1:c.98405A>C (TTN) XP_016860308.1:p.Tyr32802Ser
XM_017004820.1:c.93803A>C (TTN) XP_016860309.1:p.Tyr31268Ser
XM_017004821.1:c.93800A>C (TTN) XP_016860310.1:p.Tyr31267Ser
XM_017004822.1:c.90842A>C (TTN) XP_016860311.1:p.Tyr30281Ser
XM_017004823.1:c.72458A>C (TTN) XP_016860312.1:p.Tyr24153Ser
XM_024453094.1:c.93953A>C (TTN) XP_024308862.1:p.Tyr31318Ser
XM_024453095.1:c.93950A>C (TTN) XP_024308863.1:p.Tyr31317Ser
XM_024453096.1:c.93383A>C (TTN) XP_024308864.1:p.Tyr31128Ser
XM_024453097.1:c.90725A>C (TTN) XP_024308865.1:p.Tyr30242Ser
XM_024453098.1:c.90644A>C (TTN) XP_024308866.1:p.Tyr30215Ser
XM_024453099.1:c.72407A>C (TTN) XP_024308867.1:p.Tyr24136Ser
XM_024453100.1:c.62261A>C (TTN) XP_024308868.1:p.Tyr20754Ser