Canonical Allele Identifier: CA349427717

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537536G>T , CM000664.2:g.178537536G>T GRCh38
NC_000002.11:g.179402263G>T , CM000664.1:g.179402263G>T GRCh37
NC_000002.10:g.179110509G>T NCBI36
NG_011618.3:g.298267C>A , LRG_391:g.298267C>A
NG_051363.1:g.19710G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91967C>A (TTN) ENSP00000343764.6:p.Pro30656Gln
ENST00000342175.11:c.73052C>A (TTN) ENSP00000340554.6:p.Pro24351Gln
ENST00000359218.10:c.72851C>A (TTN) ENSP00000352154.5:p.Pro24284Gln
ENST00000342175.10:c.73052C>A (TTN) ENSP00000340554.6:p.Pro24351Gln
ENST00000342992.10:c.91967C>A (TTN) ENSP00000343764.6:p.Pro30656Gln
ENST00000359218.9:c.72851C>A (TTN) ENSP00000352154.5:p.Pro24284Gln
ENST00000460472.6:c.72476C>A (TTN) ENSP00000434586.1:p.Pro24159Gln
ENST00000589042.5:c.99671C>A (TTN) MANE Select ENSP00000467141.1:p.Pro33224Gln
ENST00000591111.5:c.94748C>A (TTN) ENSP00000465570.1:p.Pro31583Gln
ENST00000615779.4:c.94748C>A (TTN) ENSP00000483597.1:p.Pro31583Gln
NM_001256850.1:c.94748C>A (TTN) NP_001243779.1:p.Pro31583Gln
NM_001267550.2:c.99671C>A (TTN) MANE Select NP_001254479.2:p.Pro33224Gln
NM_003319.4:c.72476C>A (TTN) NP_003310.4:p.Pro24159Gln
NM_133378.4:c.91967C>A (TTN) NP_596869.4:p.Pro30656Gln
NM_133432.3:c.72851C>A (TTN) NP_597676.3:p.Pro24284Gln
NM_133437.4:c.73052C>A (TTN) NP_597681.4:p.Pro24351Gln
NR_038271.1:n.446+13900G>T (TTN-AS1)
NR_038272.1:n.492G>T (TTN-AS1)
XM_011511729.1:c.98768C>A (TTN) XP_011510031.1:p.Pro32923Gln
XM_011511730.1:c.72662C>A (TTN) XP_011510032.1:p.Pro24221Gln
XM_011511731.1:c.72521C>A (TTN) XP_011510033.1:p.Pro24174Gln
XM_017004819.1:c.98564C>A (TTN) XP_016860308.1:p.Pro32855Gln
XM_017004820.1:c.93962C>A (TTN) XP_016860309.1:p.Pro31321Gln
XM_017004821.1:c.93959C>A (TTN) XP_016860310.1:p.Pro31320Gln
XM_017004822.1:c.91001C>A (TTN) XP_016860311.1:p.Pro30334Gln
XM_017004823.1:c.72617C>A (TTN) XP_016860312.1:p.Pro24206Gln
XM_024453094.1:c.94112C>A (TTN) XP_024308862.1:p.Pro31371Gln
XM_024453095.1:c.94109C>A (TTN) XP_024308863.1:p.Pro31370Gln
XM_024453096.1:c.93542C>A (TTN) XP_024308864.1:p.Pro31181Gln
XM_024453097.1:c.90884C>A (TTN) XP_024308865.1:p.Pro30295Gln
XM_024453098.1:c.90803C>A (TTN) XP_024308866.1:p.Pro30268Gln
XM_024453099.1:c.72566C>A (TTN) XP_024308867.1:p.Pro24189Gln
XM_024453100.1:c.62420C>A (TTN) XP_024308868.1:p.Pro20807Gln