Canonical Allele Identifier: CA349495576

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549774C>A , CM000664.2:g.178549774C>A GRCh38
NC_000002.11:g.179414501C>A , CM000664.1:g.179414501C>A GRCh37
NC_000002.10:g.179122747C>A NCBI36
NG_011618.3:g.286029G>T , LRG_391:g.286029G>T
NG_051363.1:g.31948C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84244G>T (TTN) ENSP00000343764.6:p.Ala28082Ser
ENST00000342175.11:c.65329G>T (TTN) ENSP00000340554.6:p.Ala21777Ser
ENST00000359218.10:c.65128G>T (TTN) ENSP00000352154.5:p.Ala21710Ser
ENST00000342175.10:c.65329G>T (TTN) ENSP00000340554.6:p.Ala21777Ser
ENST00000342992.10:c.84244G>T (TTN) ENSP00000343764.6:p.Ala28082Ser
ENST00000359218.9:c.65128G>T (TTN) ENSP00000352154.5:p.Ala21710Ser
ENST00000460472.6:c.64753G>T (TTN) ENSP00000434586.1:p.Ala21585Ser
ENST00000589042.5:c.91948G>T (TTN) MANE Select ENSP00000467141.1:p.Ala30650Ser
ENST00000591111.5:c.87025G>T (TTN) ENSP00000465570.1:p.Ala29009Ser
ENST00000615779.4:c.87025G>T (TTN) ENSP00000483597.1:p.Ala29009Ser
NM_001256850.1:c.87025G>T (TTN) NP_001243779.1:p.Ala29009Ser
NM_001267550.2:c.91948G>T (TTN) MANE Select NP_001254479.2:p.Ala30650Ser
NM_003319.4:c.64753G>T (TTN) NP_003310.4:p.Ala21585Ser
NM_133378.4:c.84244G>T (TTN) NP_596869.4:p.Ala28082Ser
NM_133432.3:c.65128G>T (TTN) NP_597676.3:p.Ala21710Ser
NM_133437.4:c.65329G>T (TTN) NP_597681.4:p.Ala21777Ser
NR_038271.1:n.447-21526C>A (TTN-AS1)
NR_038272.1:n.2043+7413C>A (TTN-AS1)
XM_011511729.1:c.91045G>T (TTN) XP_011510031.1:p.Ala30349Ser
XM_011511730.1:c.64939G>T (TTN) XP_011510032.1:p.Ala21647Ser
XM_011511731.1:c.64798G>T (TTN) XP_011510033.1:p.Ala21600Ser
XM_017004819.1:c.90841G>T (TTN) XP_016860308.1:p.Ala30281Ser
XM_017004820.1:c.86239G>T (TTN) XP_016860309.1:p.Ala28747Ser
XM_017004821.1:c.86236G>T (TTN) XP_016860310.1:p.Ala28746Ser
XM_017004822.1:c.83278G>T (TTN) XP_016860311.1:p.Ala27760Ser
XM_017004823.1:c.64894G>T (TTN) XP_016860312.1:p.Ala21632Ser
XM_024453094.1:c.86389G>T (TTN) XP_024308862.1:p.Ala28797Ser
XM_024453095.1:c.86386G>T (TTN) XP_024308863.1:p.Ala28796Ser
XM_024453096.1:c.85819G>T (TTN) XP_024308864.1:p.Ala28607Ser
XM_024453097.1:c.83161G>T (TTN) XP_024308865.1:p.Ala27721Ser
XM_024453098.1:c.83080G>T (TTN) XP_024308866.1:p.Ala27694Ser
XM_024453099.1:c.64843G>T (TTN) XP_024308867.1:p.Ala21615Ser
XM_024453100.1:c.54697G>T (TTN) XP_024308868.1:p.Ala18233Ser