Canonical Allele Identifier: CA349611880

Linked Data

dbSNP Id: rs1707063694

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568922A>G , CM000664.2:g.178568922A>G GRCh38
NC_000002.11:g.179433649A>G , CM000664.1:g.179433649A>G GRCh37
NC_000002.10:g.179141895A>G NCBI36
NG_011618.3:g.266881T>C , LRG_391:g.266881T>C
NG_051363.1:g.51096A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69506T>C (TTN) ENSP00000343764.6:p.Met23169Thr
ENST00000342175.11:c.50591T>C (TTN) ENSP00000340554.6:p.Met16864Thr
ENST00000359218.10:c.50390T>C (TTN) ENSP00000352154.5:p.Met16797Thr
ENST00000342175.10:c.50591T>C (TTN) ENSP00000340554.6:p.Met16864Thr
ENST00000342992.10:c.69506T>C (TTN) ENSP00000343764.6:p.Met23169Thr
ENST00000359218.9:c.50390T>C (TTN) ENSP00000352154.5:p.Met16797Thr
ENST00000460472.6:c.50015T>C (TTN) ENSP00000434586.1:p.Met16672Thr
ENST00000589042.5:c.77210T>C (TTN) MANE Select ENSP00000467141.1:p.Met25737Thr
ENST00000591111.5:c.72287T>C (TTN) ENSP00000465570.1:p.Met24096Thr
ENST00000615779.4:c.72287T>C (TTN) ENSP00000483597.1:p.Met24096Thr
NM_001256850.1:c.72287T>C (TTN) NP_001243779.1:p.Met24096Thr
NM_001267550.2:c.77210T>C (TTN) MANE Select NP_001254479.2:p.Met25737Thr
NM_003319.4:c.50015T>C (TTN) NP_003310.4:p.Met16672Thr
NM_133378.4:c.69506T>C (TTN) NP_596869.4:p.Met23169Thr
NM_133432.3:c.50390T>C (TTN) NP_597676.3:p.Met16797Thr
NM_133437.4:c.50591T>C (TTN) NP_597681.4:p.Met16864Thr
NR_038271.1:n.447-2378A>G (TTN-AS1)
NR_038272.1:n.2044-13650A>G (TTN-AS1)
XM_011511729.1:c.76307T>C (TTN) XP_011510031.1:p.Met25436Thr
XM_011511730.1:c.50201T>C (TTN) XP_011510032.1:p.Met16734Thr
XM_011511731.1:c.50060T>C (TTN) XP_011510033.1:p.Met16687Thr
XM_017004819.1:c.76103T>C (TTN) XP_016860308.1:p.Met25368Thr
XM_017004820.1:c.71501T>C (TTN) XP_016860309.1:p.Met23834Thr
XM_017004821.1:c.71498T>C (TTN) XP_016860310.1:p.Met23833Thr
XM_017004822.1:c.68540T>C (TTN) XP_016860311.1:p.Met22847Thr
XM_017004823.1:c.50156T>C (TTN) XP_016860312.1:p.Met16719Thr
XM_024453094.1:c.71651T>C (TTN) XP_024308862.1:p.Met23884Thr
XM_024453095.1:c.71648T>C (TTN) XP_024308863.1:p.Met23883Thr
XM_024453096.1:c.71081T>C (TTN) XP_024308864.1:p.Met23694Thr
XM_024453097.1:c.68423T>C (TTN) XP_024308865.1:p.Met22808Thr
XM_024453098.1:c.68342T>C (TTN) XP_024308866.1:p.Met22781Thr
XM_024453099.1:c.50105T>C (TTN) XP_024308867.1:p.Met16702Thr
XM_024453100.1:c.39959T>C (TTN) XP_024308868.1:p.Met13320Thr