Canonical Allele Identifier: CA349648258

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573968C>T , CM000664.2:g.178573968C>T GRCh38
NC_000002.11:g.179438695C>T , CM000664.1:g.179438695C>T GRCh37
NC_000002.10:g.179146941C>T NCBI36
NG_011618.3:g.261835G>A , LRG_391:g.261835G>A
NG_051363.1:g.56142C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64460G>A (TTN) ENSP00000343764.6:p.Gly21487Asp
ENST00000342175.11:c.45545G>A (TTN) ENSP00000340554.6:p.Gly15182Asp
ENST00000359218.10:c.45344G>A (TTN) ENSP00000352154.5:p.Gly15115Asp
ENST00000342175.10:c.45545G>A (TTN) ENSP00000340554.6:p.Gly15182Asp
ENST00000342992.10:c.64460G>A (TTN) ENSP00000343764.6:p.Gly21487Asp
ENST00000359218.9:c.45344G>A (TTN) ENSP00000352154.5:p.Gly15115Asp
ENST00000460472.6:c.44969G>A (TTN) ENSP00000434586.1:p.Gly14990Asp
ENST00000589042.5:c.72164G>A (TTN) MANE Select ENSP00000467141.1:p.Gly24055Asp
ENST00000591111.5:c.67241G>A (TTN) ENSP00000465570.1:p.Gly22414Asp
ENST00000615779.4:c.67241G>A (TTN) ENSP00000483597.1:p.Gly22414Asp
NM_001256850.1:c.67241G>A (TTN) NP_001243779.1:p.Gly22414Asp
NM_001267550.2:c.72164G>A (TTN) MANE Select NP_001254479.2:p.Gly24055Asp
NM_003319.4:c.44969G>A (TTN) NP_003310.4:p.Gly14990Asp
NM_133378.4:c.64460G>A (TTN) NP_596869.4:p.Gly21487Asp
NM_133432.3:c.45344G>A (TTN) NP_597676.3:p.Gly15115Asp
NM_133437.4:c.45545G>A (TTN) NP_597681.4:p.Gly15182Asp
NR_038271.1:n.596+2519C>T (TTN-AS1)
NR_038272.1:n.2044-8604C>T (TTN-AS1)
XM_011511729.1:c.71261G>A (TTN) XP_011510031.1:p.Gly23754Asp
XM_011511730.1:c.45155G>A (TTN) XP_011510032.1:p.Gly15052Asp
XM_011511731.1:c.45014G>A (TTN) XP_011510033.1:p.Gly15005Asp
XM_017004819.1:c.71057G>A (TTN) XP_016860308.1:p.Gly23686Asp
XM_017004820.1:c.66455G>A (TTN) XP_016860309.1:p.Gly22152Asp
XM_017004821.1:c.66452G>A (TTN) XP_016860310.1:p.Gly22151Asp
XM_017004822.1:c.63494G>A (TTN) XP_016860311.1:p.Gly21165Asp
XM_017004823.1:c.45110G>A (TTN) XP_016860312.1:p.Gly15037Asp
XM_024453094.1:c.66605G>A (TTN) XP_024308862.1:p.Gly22202Asp
XM_024453095.1:c.66602G>A (TTN) XP_024308863.1:p.Gly22201Asp
XM_024453096.1:c.66035G>A (TTN) XP_024308864.1:p.Gly22012Asp
XM_024453097.1:c.63377G>A (TTN) XP_024308865.1:p.Gly21126Asp
XM_024453098.1:c.63296G>A (TTN) XP_024308866.1:p.Gly21099Asp
XM_024453099.1:c.45059G>A (TTN) XP_024308867.1:p.Gly15020Asp
XM_024453100.1:c.34913G>A (TTN) XP_024308868.1:p.Gly11638Asp