Canonical Allele Identifier: CA349648254

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64460G>T (TTN) ENSP00000343764.6:p.Gly21487Val
ENST00000342175.11:c.45545G>T (TTN) ENSP00000340554.6:p.Gly15182Val
ENST00000359218.10:c.45344G>T (TTN) ENSP00000352154.5:p.Gly15115Val
ENST00000342175.10:c.45545G>T (TTN) ENSP00000340554.6:p.Gly15182Val
ENST00000342992.10:c.64460G>T (TTN) ENSP00000343764.6:p.Gly21487Val
ENST00000359218.9:c.45344G>T (TTN) ENSP00000352154.5:p.Gly15115Val
ENST00000460472.6:c.44969G>T (TTN) ENSP00000434586.1:p.Gly14990Val
ENST00000589042.5:c.72164G>T (TTN) MANE Select ENSP00000467141.1:p.Gly24055Val
ENST00000591111.5:c.67241G>T (TTN) ENSP00000465570.1:p.Gly22414Val
ENST00000615779.4:c.67241G>T (TTN) ENSP00000483597.1:p.Gly22414Val
NM_001256850.1:c.67241G>T (TTN) NP_001243779.1:p.Gly22414Val
NM_001267550.2:c.72164G>T (TTN) MANE Select NP_001254479.2:p.Gly24055Val
NM_003319.4:c.44969G>T (TTN) NP_003310.4:p.Gly14990Val
NM_133378.4:c.64460G>T (TTN) NP_596869.4:p.Gly21487Val
NM_133432.3:c.45344G>T (TTN) NP_597676.3:p.Gly15115Val
NM_133437.4:c.45545G>T (TTN) NP_597681.4:p.Gly15182Val
NR_038271.1:n.596+2519C>A (TTN-AS1)
NR_038272.1:n.2044-8604C>A (TTN-AS1)
XM_011511729.1:c.71261G>T (TTN) XP_011510031.1:p.Gly23754Val
XM_011511730.1:c.45155G>T (TTN) XP_011510032.1:p.Gly15052Val
XM_011511731.1:c.45014G>T (TTN) XP_011510033.1:p.Gly15005Val
XM_017004819.1:c.71057G>T (TTN) XP_016860308.1:p.Gly23686Val
XM_017004820.1:c.66455G>T (TTN) XP_016860309.1:p.Gly22152Val
XM_017004821.1:c.66452G>T (TTN) XP_016860310.1:p.Gly22151Val
XM_017004822.1:c.63494G>T (TTN) XP_016860311.1:p.Gly21165Val
XM_017004823.1:c.45110G>T (TTN) XP_016860312.1:p.Gly15037Val
XM_024453094.1:c.66605G>T (TTN) XP_024308862.1:p.Gly22202Val
XM_024453095.1:c.66602G>T (TTN) XP_024308863.1:p.Gly22201Val
XM_024453096.1:c.66035G>T (TTN) XP_024308864.1:p.Gly22012Val
XM_024453097.1:c.63377G>T (TTN) XP_024308865.1:p.Gly21126Val
XM_024453098.1:c.63296G>T (TTN) XP_024308866.1:p.Gly21099Val
XM_024453099.1:c.45059G>T (TTN) XP_024308867.1:p.Gly15020Val
XM_024453100.1:c.34913G>T (TTN) XP_024308868.1:p.Gly11638Val