Canonical Allele Identifier: CA349434824

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539966T>C , CM000664.2:g.178539966T>C GRCh38
NC_000002.11:g.179404693T>C , CM000664.1:g.179404693T>C GRCh37
NC_000002.10:g.179112939T>C NCBI36
NG_011618.3:g.295837A>G , LRG_391:g.295837A>G
NG_051363.1:g.22140T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90395A>G (TTN) ENSP00000343764.6:p.Glu30132Gly
ENST00000342175.11:c.71480A>G (TTN) ENSP00000340554.6:p.Glu23827Gly
ENST00000359218.10:c.71279A>G (TTN) ENSP00000352154.5:p.Glu23760Gly
ENST00000342175.10:c.71480A>G (TTN) ENSP00000340554.6:p.Glu23827Gly
ENST00000342992.10:c.90395A>G (TTN) ENSP00000343764.6:p.Glu30132Gly
ENST00000359218.9:c.71279A>G (TTN) ENSP00000352154.5:p.Glu23760Gly
ENST00000460472.6:c.70904A>G (TTN) ENSP00000434586.1:p.Glu23635Gly
ENST00000589042.5:c.98099A>G (TTN) MANE Select ENSP00000467141.1:p.Glu32700Gly
ENST00000591111.5:c.93176A>G (TTN) ENSP00000465570.1:p.Glu31059Gly
ENST00000615779.4:c.93176A>G (TTN) ENSP00000483597.1:p.Glu31059Gly
NM_001256850.1:c.93176A>G (TTN) NP_001243779.1:p.Glu31059Gly
NM_001267550.2:c.98099A>G (TTN) MANE Select NP_001254479.2:p.Glu32700Gly
NM_003319.4:c.70904A>G (TTN) NP_003310.4:p.Glu23635Gly
NM_133378.4:c.90395A>G (TTN) NP_596869.4:p.Glu30132Gly
NM_133432.3:c.71279A>G (TTN) NP_597676.3:p.Glu23760Gly
NM_133437.4:c.71480A>G (TTN) NP_597681.4:p.Glu23827Gly
NR_038271.1:n.446+16330T>C (TTN-AS1)
NR_038272.1:n.1840+76T>C (TTN-AS1)
XM_011511729.1:c.97196A>G (TTN) XP_011510031.1:p.Glu32399Gly
XM_011511730.1:c.71090A>G (TTN) XP_011510032.1:p.Glu23697Gly
XM_011511731.1:c.70949A>G (TTN) XP_011510033.1:p.Glu23650Gly
XM_017004819.1:c.96992A>G (TTN) XP_016860308.1:p.Glu32331Gly
XM_017004820.1:c.92390A>G (TTN) XP_016860309.1:p.Glu30797Gly
XM_017004821.1:c.92387A>G (TTN) XP_016860310.1:p.Glu30796Gly
XM_017004822.1:c.89429A>G (TTN) XP_016860311.1:p.Glu29810Gly
XM_017004823.1:c.71045A>G (TTN) XP_016860312.1:p.Glu23682Gly
XM_024453094.1:c.92540A>G (TTN) XP_024308862.1:p.Glu30847Gly
XM_024453095.1:c.92537A>G (TTN) XP_024308863.1:p.Glu30846Gly
XM_024453096.1:c.91970A>G (TTN) XP_024308864.1:p.Glu30657Gly
XM_024453097.1:c.89312A>G (TTN) XP_024308865.1:p.Glu29771Gly
XM_024453098.1:c.89231A>G (TTN) XP_024308866.1:p.Glu29744Gly
XM_024453099.1:c.70994A>G (TTN) XP_024308867.1:p.Glu23665Gly
XM_024453100.1:c.60848A>G (TTN) XP_024308868.1:p.Glu20283Gly