Canonical Allele Identifier: CA310086

Linked Data

ClinVar Variation Id: 202722
dbSNP Id: rs192788942

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602323G>A , CM000664.2:g.178602323G>A GRCh38
NC_000002.11:g.179467050G>A , CM000664.1:g.179467050G>A GRCh37
NC_000002.10:g.179175295G>A NCBI36
NG_011618.3:g.233480C>T , LRG_391:g.233480C>T
NG_051363.1:g.84497G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47375C>T (TTN) ENSP00000343764.6:p.Pro15792Leu
ENST00000342175.11:c.28460C>T (TTN) ENSP00000340554.6:p.Pro9487Leu
ENST00000359218.10:c.28259C>T (TTN) ENSP00000352154.5:p.Pro9420Leu
ENST00000342175.10:c.28460C>T (TTN) ENSP00000340554.6:p.Pro9487Leu
ENST00000342992.10:c.47375C>T (TTN) ENSP00000343764.6:p.Pro15792Leu
ENST00000359218.9:c.28259C>T (TTN) ENSP00000352154.5:p.Pro9420Leu
ENST00000460472.6:c.27884C>T (TTN) ENSP00000434586.1:p.Pro9295Leu
ENST00000589042.5:c.55079C>T (TTN) MANE Select ENSP00000467141.1:p.Pro18360Leu
ENST00000591111.5:c.50156C>T (TTN) ENSP00000465570.1:p.Pro16719Leu
ENST00000615779.4:c.50156C>T (TTN) ENSP00000483597.1:p.Pro16719Leu
NM_001256850.1:c.50156C>T (TTN) NP_001243779.1:p.Pro16719Leu
NM_001267550.2:c.55079C>T (TTN) MANE Select NP_001254479.2:p.Pro18360Leu
NM_003319.4:c.27884C>T (TTN) NP_003310.4:p.Pro9295Leu
NM_133378.4:c.47375C>T (TTN) NP_596869.4:p.Pro15792Leu
NM_133432.3:c.28259C>T (TTN) NP_597676.3:p.Pro9420Leu
NM_133437.4:c.28460C>T (TTN) NP_597681.4:p.Pro9487Leu
NR_038271.1:n.682+4642G>A (TTN-AS1)
NR_038272.1:n.3917+1656G>A (TTN-AS1)
XM_011511729.1:c.54176C>T (TTN) XP_011510031.1:p.Pro18059Leu
XM_011511730.1:c.28070C>T (TTN) XP_011510032.1:p.Pro9357Leu
XM_011511731.1:c.27929C>T (TTN) XP_011510033.1:p.Pro9310Leu
XM_017004819.1:c.53972C>T (TTN) XP_016860308.1:p.Pro17991Leu
XM_017004820.1:c.49370C>T (TTN) XP_016860309.1:p.Pro16457Leu
XM_017004821.1:c.49367C>T (TTN) XP_016860310.1:p.Pro16456Leu
XM_017004822.1:c.46409C>T (TTN) XP_016860311.1:p.Pro15470Leu
XM_017004823.1:c.28025C>T (TTN) XP_016860312.1:p.Pro9342Leu
XM_024453094.1:c.49520C>T (TTN) XP_024308862.1:p.Pro16507Leu
XM_024453095.1:c.49517C>T (TTN) XP_024308863.1:p.Pro16506Leu
XM_024453096.1:c.48950C>T (TTN) XP_024308864.1:p.Pro16317Leu
XM_024453097.1:c.46292C>T (TTN) XP_024308865.1:p.Pro15431Leu
XM_024453098.1:c.46211C>T (TTN) XP_024308866.1:p.Pro15404Leu
XM_024453099.1:c.27974C>T (TTN) XP_024308867.1:p.Pro9325Leu
XM_024453100.1:c.17828C>T (TTN) XP_024308868.1:p.Pro5943Leu