Canonical Allele Identifier: CA349636466

Linked Data

dbSNP Id: rs1363540353

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572258A>G , CM000664.2:g.178572258A>G GRCh38
NC_000002.11:g.179436985A>G , CM000664.1:g.179436985A>G GRCh37
NC_000002.10:g.179145231A>G NCBI36
NG_011618.3:g.263545T>C , LRG_391:g.263545T>C
NG_051363.1:g.54432A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.66170T>C (TTN) ENSP00000343764.6:p.Leu22057Ser
ENST00000342175.11:c.47255T>C (TTN) ENSP00000340554.6:p.Leu15752Ser
ENST00000359218.10:c.47054T>C (TTN) ENSP00000352154.5:p.Leu15685Ser
ENST00000342175.10:c.47255T>C (TTN) ENSP00000340554.6:p.Leu15752Ser
ENST00000342992.10:c.66170T>C (TTN) ENSP00000343764.6:p.Leu22057Ser
ENST00000359218.9:c.47054T>C (TTN) ENSP00000352154.5:p.Leu15685Ser
ENST00000460472.6:c.46679T>C (TTN) ENSP00000434586.1:p.Leu15560Ser
ENST00000589042.5:c.73874T>C (TTN) MANE Select ENSP00000467141.1:p.Leu24625Ser
ENST00000591111.5:c.68951T>C (TTN) ENSP00000465570.1:p.Leu22984Ser
ENST00000615779.4:c.68951T>C (TTN) ENSP00000483597.1:p.Leu22984Ser
NM_001256850.1:c.68951T>C (TTN) NP_001243779.1:p.Leu22984Ser
NM_001267550.2:c.73874T>C (TTN) MANE Select NP_001254479.2:p.Leu24625Ser
NM_003319.4:c.46679T>C (TTN) NP_003310.4:p.Leu15560Ser
NM_133378.4:c.66170T>C (TTN) NP_596869.4:p.Leu22057Ser
NM_133432.3:c.47054T>C (TTN) NP_597676.3:p.Leu15685Ser
NM_133437.4:c.47255T>C (TTN) NP_597681.4:p.Leu15752Ser
NR_038271.1:n.596+809A>G (TTN-AS1)
NR_038272.1:n.2044-10314A>G (TTN-AS1)
XM_011511729.1:c.72971T>C (TTN) XP_011510031.1:p.Leu24324Ser
XM_011511730.1:c.46865T>C (TTN) XP_011510032.1:p.Leu15622Ser
XM_011511731.1:c.46724T>C (TTN) XP_011510033.1:p.Leu15575Ser
XM_017004819.1:c.72767T>C (TTN) XP_016860308.1:p.Leu24256Ser
XM_017004820.1:c.68165T>C (TTN) XP_016860309.1:p.Leu22722Ser
XM_017004821.1:c.68162T>C (TTN) XP_016860310.1:p.Leu22721Ser
XM_017004822.1:c.65204T>C (TTN) XP_016860311.1:p.Leu21735Ser
XM_017004823.1:c.46820T>C (TTN) XP_016860312.1:p.Leu15607Ser
XM_024453094.1:c.68315T>C (TTN) XP_024308862.1:p.Leu22772Ser
XM_024453095.1:c.68312T>C (TTN) XP_024308863.1:p.Leu22771Ser
XM_024453096.1:c.67745T>C (TTN) XP_024308864.1:p.Leu22582Ser
XM_024453097.1:c.65087T>C (TTN) XP_024308865.1:p.Leu21696Ser
XM_024453098.1:c.65006T>C (TTN) XP_024308866.1:p.Leu21669Ser
XM_024453099.1:c.46769T>C (TTN) XP_024308867.1:p.Leu15590Ser
XM_024453100.1:c.36623T>C (TTN) XP_024308868.1:p.Leu12208Ser