Canonical Allele Identifier: CA349495726

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549792G>A , CM000664.2:g.178549792G>A GRCh38
NC_000002.11:g.179414519G>A , CM000664.1:g.179414519G>A GRCh37
NC_000002.10:g.179122765G>A NCBI36
NG_011618.3:g.286011C>T , LRG_391:g.286011C>T
NG_051363.1:g.31966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84226C>T (TTN) ENSP00000343764.6:p.Pro28076Ser
ENST00000342175.11:c.65311C>T (TTN) ENSP00000340554.6:p.Pro21771Ser
ENST00000359218.10:c.65110C>T (TTN) ENSP00000352154.5:p.Pro21704Ser
ENST00000342175.10:c.65311C>T (TTN) ENSP00000340554.6:p.Pro21771Ser
ENST00000342992.10:c.84226C>T (TTN) ENSP00000343764.6:p.Pro28076Ser
ENST00000359218.9:c.65110C>T (TTN) ENSP00000352154.5:p.Pro21704Ser
ENST00000460472.6:c.64735C>T (TTN) ENSP00000434586.1:p.Pro21579Ser
ENST00000589042.5:c.91930C>T (TTN) MANE Select ENSP00000467141.1:p.Pro30644Ser
ENST00000591111.5:c.87007C>T (TTN) ENSP00000465570.1:p.Pro29003Ser
ENST00000615779.4:c.87007C>T (TTN) ENSP00000483597.1:p.Pro29003Ser
NM_001256850.1:c.87007C>T (TTN) NP_001243779.1:p.Pro29003Ser
NM_001267550.2:c.91930C>T (TTN) MANE Select NP_001254479.2:p.Pro30644Ser
NM_003319.4:c.64735C>T (TTN) NP_003310.4:p.Pro21579Ser
NM_133378.4:c.84226C>T (TTN) NP_596869.4:p.Pro28076Ser
NM_133432.3:c.65110C>T (TTN) NP_597676.3:p.Pro21704Ser
NM_133437.4:c.65311C>T (TTN) NP_597681.4:p.Pro21771Ser
NR_038271.1:n.447-21508G>A (TTN-AS1)
NR_038272.1:n.2043+7431G>A (TTN-AS1)
XM_011511729.1:c.91027C>T (TTN) XP_011510031.1:p.Pro30343Ser
XM_011511730.1:c.64921C>T (TTN) XP_011510032.1:p.Pro21641Ser
XM_011511731.1:c.64780C>T (TTN) XP_011510033.1:p.Pro21594Ser
XM_017004819.1:c.90823C>T (TTN) XP_016860308.1:p.Pro30275Ser
XM_017004820.1:c.86221C>T (TTN) XP_016860309.1:p.Pro28741Ser
XM_017004821.1:c.86218C>T (TTN) XP_016860310.1:p.Pro28740Ser
XM_017004822.1:c.83260C>T (TTN) XP_016860311.1:p.Pro27754Ser
XM_017004823.1:c.64876C>T (TTN) XP_016860312.1:p.Pro21626Ser
XM_024453094.1:c.86371C>T (TTN) XP_024308862.1:p.Pro28791Ser
XM_024453095.1:c.86368C>T (TTN) XP_024308863.1:p.Pro28790Ser
XM_024453096.1:c.85801C>T (TTN) XP_024308864.1:p.Pro28601Ser
XM_024453097.1:c.83143C>T (TTN) XP_024308865.1:p.Pro27715Ser
XM_024453098.1:c.83062C>T (TTN) XP_024308866.1:p.Pro27688Ser
XM_024453099.1:c.64825C>T (TTN) XP_024308867.1:p.Pro21609Ser
XM_024453100.1:c.54679C>T (TTN) XP_024308868.1:p.Pro18227Ser