Canonical Allele Identifier: CA349604886

Linked Data

dbSNP Id: rs1559803892

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613908G>T , CM000664.2:g.178613908G>T GRCh38
NC_000002.11:g.179478635G>T , CM000664.1:g.179478635G>T GRCh37
NC_000002.10:g.179186880G>T NCBI36
NG_011618.3:g.221895C>A , LRG_391:g.221895C>A
NG_051363.1:g.96082G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41671C>A (TTN) ENSP00000343764.6:p.Pro13891Thr
ENST00000342175.11:c.22756C>A (TTN) ENSP00000340554.6:p.Pro7586Thr
ENST00000359218.10:c.22555C>A (TTN) ENSP00000352154.5:p.Pro7519Thr
ENST00000342175.10:c.22756C>A (TTN) ENSP00000340554.6:p.Pro7586Thr
ENST00000342992.10:c.41671C>A (TTN) ENSP00000343764.6:p.Pro13891Thr
ENST00000359218.9:c.22555C>A (TTN) ENSP00000352154.5:p.Pro7519Thr
ENST00000460472.6:c.22180C>A (TTN) ENSP00000434586.1:p.Pro7394Thr
ENST00000589042.5:c.49375C>A (TTN) MANE Select ENSP00000467141.1:p.Pro16459Thr
ENST00000591111.5:c.44452C>A (TTN) ENSP00000465570.1:p.Pro14818Thr
ENST00000615779.4:c.44452C>A (TTN) ENSP00000483597.1:p.Pro14818Thr
NM_001256850.1:c.44452C>A (TTN) NP_001243779.1:p.Pro14818Thr
NM_001267550.2:c.49375C>A (TTN) MANE Select NP_001254479.2:p.Pro16459Thr
NM_003319.4:c.22180C>A (TTN) NP_003310.4:p.Pro7394Thr
NM_133378.4:c.41671C>A (TTN) NP_596869.4:p.Pro13891Thr
NM_133432.3:c.22555C>A (TTN) NP_597676.3:p.Pro7519Thr
NM_133437.4:c.22756C>A (TTN) NP_597681.4:p.Pro7586Thr
NR_038271.1:n.783-127G>T (TTN-AS1)
XM_011511729.1:c.48472C>A (TTN) XP_011510031.1:p.Pro16158Thr
XM_011511730.1:c.22366C>A (TTN) XP_011510032.1:p.Pro7456Thr
XM_011511731.1:c.22225C>A (TTN) XP_011510033.1:p.Pro7409Thr
XM_017004819.1:c.48268C>A (TTN) XP_016860308.1:p.Pro16090Thr
XM_017004820.1:c.43666C>A (TTN) XP_016860309.1:p.Pro14556Thr
XM_017004821.1:c.43663C>A (TTN) XP_016860310.1:p.Pro14555Thr
XM_017004822.1:c.40705C>A (TTN) XP_016860311.1:p.Pro13569Thr
XM_017004823.1:c.22321C>A (TTN) XP_016860312.1:p.Pro7441Thr
XM_024453094.1:c.43816C>A (TTN) XP_024308862.1:p.Pro14606Thr
XM_024453095.1:c.43813C>A (TTN) XP_024308863.1:p.Pro14605Thr
XM_024453096.1:c.43246C>A (TTN) XP_024308864.1:p.Pro14416Thr
XM_024453097.1:c.40588C>A (TTN) XP_024308865.1:p.Pro13530Thr
XM_024453098.1:c.40507C>A (TTN) XP_024308866.1:p.Pro13503Thr
XM_024453099.1:c.22270C>A (TTN) XP_024308867.1:p.Pro7424Thr
XM_024453100.1:c.12124C>A (TTN) XP_024308868.1:p.Pro4042Thr