Canonical Allele Identifier: CA349436104

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584683G>T , CM000664.2:g.178584683G>T GRCh38
NC_000002.11:g.179449410G>T , CM000664.1:g.179449410G>T GRCh37
NC_000002.10:g.179157656G>T NCBI36
NG_011618.3:g.251120C>A , LRG_391:g.251120C>A
NG_051363.1:g.66857G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57254C>A (TTN) ENSP00000343764.6:p.Ala19085Glu
ENST00000342175.11:c.38339C>A (TTN) ENSP00000340554.6:p.Ala12780Glu
ENST00000359218.10:c.38138C>A (TTN) ENSP00000352154.5:p.Ala12713Glu
ENST00000342175.10:c.38339C>A (TTN) ENSP00000340554.6:p.Ala12780Glu
ENST00000342992.10:c.57254C>A (TTN) ENSP00000343764.6:p.Ala19085Glu
ENST00000359218.9:c.38138C>A (TTN) ENSP00000352154.5:p.Ala12713Glu
ENST00000460472.6:c.37763C>A (TTN) ENSP00000434586.1:p.Ala12588Glu
ENST00000589042.5:c.64958C>A (TTN) MANE Select ENSP00000467141.1:p.Ala21653Glu
ENST00000591111.5:c.60035C>A (TTN) ENSP00000465570.1:p.Ala20012Glu
ENST00000615779.4:c.60035C>A (TTN) ENSP00000483597.1:p.Ala20012Glu
NM_001256850.1:c.60035C>A (TTN) NP_001243779.1:p.Ala20012Glu
NM_001267550.2:c.64958C>A (TTN) MANE Select NP_001254479.2:p.Ala21653Glu
NM_003319.4:c.37763C>A (TTN) NP_003310.4:p.Ala12588Glu
NM_133378.4:c.57254C>A (TTN) NP_596869.4:p.Ala19085Glu
NM_133432.3:c.38138C>A (TTN) NP_597676.3:p.Ala12713Glu
NM_133437.4:c.38339C>A (TTN) NP_597681.4:p.Ala12780Glu
NR_038271.1:n.597-12913G>T (TTN-AS1)
NR_038272.1:n.2878G>T (TTN-AS1)
XM_011511729.1:c.64055C>A (TTN) XP_011510031.1:p.Ala21352Glu
XM_011511730.1:c.37949C>A (TTN) XP_011510032.1:p.Ala12650Glu
XM_011511731.1:c.37808C>A (TTN) XP_011510033.1:p.Ala12603Glu
XM_017004819.1:c.63851C>A (TTN) XP_016860308.1:p.Ala21284Glu
XM_017004820.1:c.59249C>A (TTN) XP_016860309.1:p.Ala19750Glu
XM_017004821.1:c.59246C>A (TTN) XP_016860310.1:p.Ala19749Glu
XM_017004822.1:c.56288C>A (TTN) XP_016860311.1:p.Ala18763Glu
XM_017004823.1:c.37904C>A (TTN) XP_016860312.1:p.Ala12635Glu
XM_024453094.1:c.59399C>A (TTN) XP_024308862.1:p.Ala19800Glu
XM_024453095.1:c.59396C>A (TTN) XP_024308863.1:p.Ala19799Glu
XM_024453096.1:c.58829C>A (TTN) XP_024308864.1:p.Ala19610Glu
XM_024453097.1:c.56171C>A (TTN) XP_024308865.1:p.Ala18724Glu
XM_024453098.1:c.56090C>A (TTN) XP_024308866.1:p.Ala18697Glu
XM_024453099.1:c.37853C>A (TTN) XP_024308867.1:p.Ala12618Glu
XM_024453100.1:c.27707C>A (TTN) XP_024308868.1:p.Ala9236Glu