Canonical Allele Identifier: CA349471055

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546713G>T , CM000664.2:g.178546713G>T GRCh38
NC_000002.11:g.179411440G>T , CM000664.1:g.179411440G>T GRCh37
NC_000002.10:g.179119686G>T NCBI36
NG_011618.3:g.289090C>A , LRG_391:g.289090C>A
NG_051363.1:g.28887G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87011C>A (TTN) ENSP00000343764.6:p.Thr29004Asn
ENST00000342175.11:c.68096C>A (TTN) ENSP00000340554.6:p.Thr22699Asn
ENST00000359218.10:c.67895C>A (TTN) ENSP00000352154.5:p.Thr22632Asn
ENST00000342175.10:c.68096C>A (TTN) ENSP00000340554.6:p.Thr22699Asn
ENST00000342992.10:c.87011C>A (TTN) ENSP00000343764.6:p.Thr29004Asn
ENST00000359218.9:c.67895C>A (TTN) ENSP00000352154.5:p.Thr22632Asn
ENST00000460472.6:c.67520C>A (TTN) ENSP00000434586.1:p.Thr22507Asn
ENST00000589042.5:c.94715C>A (TTN) MANE Select ENSP00000467141.1:p.Thr31572Asn
ENST00000591111.5:c.89792C>A (TTN) ENSP00000465570.1:p.Thr29931Asn
ENST00000615779.4:c.89792C>A (TTN) ENSP00000483597.1:p.Thr29931Asn
NM_001256850.1:c.89792C>A (TTN) NP_001243779.1:p.Thr29931Asn
NM_001267550.2:c.94715C>A (TTN) MANE Select NP_001254479.2:p.Thr31572Asn
NM_003319.4:c.67520C>A (TTN) NP_003310.4:p.Thr22507Asn
NM_133378.4:c.87011C>A (TTN) NP_596869.4:p.Thr29004Asn
NM_133432.3:c.67895C>A (TTN) NP_597676.3:p.Thr22632Asn
NM_133437.4:c.68096C>A (TTN) NP_597681.4:p.Thr22699Asn
NR_038271.1:n.446+23077G>T (TTN-AS1)
NR_038272.1:n.2043+4352G>T (TTN-AS1)
XM_011511729.1:c.93812C>A (TTN) XP_011510031.1:p.Thr31271Asn
XM_011511730.1:c.67706C>A (TTN) XP_011510032.1:p.Thr22569Asn
XM_011511731.1:c.67565C>A (TTN) XP_011510033.1:p.Thr22522Asn
XM_017004819.1:c.93608C>A (TTN) XP_016860308.1:p.Thr31203Asn
XM_017004820.1:c.89006C>A (TTN) XP_016860309.1:p.Thr29669Asn
XM_017004821.1:c.89003C>A (TTN) XP_016860310.1:p.Thr29668Asn
XM_017004822.1:c.86045C>A (TTN) XP_016860311.1:p.Thr28682Asn
XM_017004823.1:c.67661C>A (TTN) XP_016860312.1:p.Thr22554Asn
XM_024453094.1:c.89156C>A (TTN) XP_024308862.1:p.Thr29719Asn
XM_024453095.1:c.89153C>A (TTN) XP_024308863.1:p.Thr29718Asn
XM_024453096.1:c.88586C>A (TTN) XP_024308864.1:p.Thr29529Asn
XM_024453097.1:c.85928C>A (TTN) XP_024308865.1:p.Thr28643Asn
XM_024453098.1:c.85847C>A (TTN) XP_024308866.1:p.Thr28616Asn
XM_024453099.1:c.67610C>A (TTN) XP_024308867.1:p.Thr22537Asn
XM_024453100.1:c.57464C>A (TTN) XP_024308868.1:p.Thr19155Asn