Canonical Allele Identifier: CA349467470

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546307A>T , CM000664.2:g.178546307A>T GRCh38
NC_000002.11:g.179411034A>T , CM000664.1:g.179411034A>T GRCh37
NC_000002.10:g.179119280A>T NCBI36
NG_011618.3:g.289496T>A , LRG_391:g.289496T>A
NG_051363.1:g.28481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87320T>A (TTN) ENSP00000343764.6:p.Ile29107Asn
ENST00000342175.11:c.68405T>A (TTN) ENSP00000340554.6:p.Ile22802Asn
ENST00000359218.10:c.68204T>A (TTN) ENSP00000352154.5:p.Ile22735Asn
ENST00000342175.10:c.68405T>A (TTN) ENSP00000340554.6:p.Ile22802Asn
ENST00000342992.10:c.87320T>A (TTN) ENSP00000343764.6:p.Ile29107Asn
ENST00000359218.9:c.68204T>A (TTN) ENSP00000352154.5:p.Ile22735Asn
ENST00000460472.6:c.67829T>A (TTN) ENSP00000434586.1:p.Ile22610Asn
ENST00000589042.5:c.95024T>A (TTN) MANE Select ENSP00000467141.1:p.Ile31675Asn
ENST00000591111.5:c.90101T>A (TTN) ENSP00000465570.1:p.Ile30034Asn
ENST00000615779.4:c.90101T>A (TTN) ENSP00000483597.1:p.Ile30034Asn
NM_001256850.1:c.90101T>A (TTN) NP_001243779.1:p.Ile30034Asn
NM_001267550.2:c.95024T>A (TTN) MANE Select NP_001254479.2:p.Ile31675Asn
NM_003319.4:c.67829T>A (TTN) NP_003310.4:p.Ile22610Asn
NM_133378.4:c.87320T>A (TTN) NP_596869.4:p.Ile29107Asn
NM_133432.3:c.68204T>A (TTN) NP_597676.3:p.Ile22735Asn
NM_133437.4:c.68405T>A (TTN) NP_597681.4:p.Ile22802Asn
NR_038271.1:n.446+22671A>T (TTN-AS1)
NR_038272.1:n.2043+3946A>T (TTN-AS1)
XM_011511729.1:c.94121T>A (TTN) XP_011510031.1:p.Ile31374Asn
XM_011511730.1:c.68015T>A (TTN) XP_011510032.1:p.Ile22672Asn
XM_011511731.1:c.67874T>A (TTN) XP_011510033.1:p.Ile22625Asn
XM_017004819.1:c.93917T>A (TTN) XP_016860308.1:p.Ile31306Asn
XM_017004820.1:c.89315T>A (TTN) XP_016860309.1:p.Ile29772Asn
XM_017004821.1:c.89312T>A (TTN) XP_016860310.1:p.Ile29771Asn
XM_017004822.1:c.86354T>A (TTN) XP_016860311.1:p.Ile28785Asn
XM_017004823.1:c.67970T>A (TTN) XP_016860312.1:p.Ile22657Asn
XM_024453094.1:c.89465T>A (TTN) XP_024308862.1:p.Ile29822Asn
XM_024453095.1:c.89462T>A (TTN) XP_024308863.1:p.Ile29821Asn
XM_024453096.1:c.88895T>A (TTN) XP_024308864.1:p.Ile29632Asn
XM_024453097.1:c.86237T>A (TTN) XP_024308865.1:p.Ile28746Asn
XM_024453098.1:c.86156T>A (TTN) XP_024308866.1:p.Ile28719Asn
XM_024453099.1:c.67919T>A (TTN) XP_024308867.1:p.Ile22640Asn
XM_024453100.1:c.57773T>A (TTN) XP_024308868.1:p.Ile19258Asn