Canonical Allele Identifier: CA349470942

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546702C>G , CM000664.2:g.178546702C>G GRCh38
NC_000002.11:g.179411429C>G , CM000664.1:g.179411429C>G GRCh37
NC_000002.10:g.179119675C>G NCBI36
NG_011618.3:g.289101G>C , LRG_391:g.289101G>C
NG_051363.1:g.28876C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87022G>C (TTN) ENSP00000343764.6:p.Glu29008Gln
ENST00000342175.11:c.68107G>C (TTN) ENSP00000340554.6:p.Glu22703Gln
ENST00000359218.10:c.67906G>C (TTN) ENSP00000352154.5:p.Glu22636Gln
ENST00000342175.10:c.68107G>C (TTN) ENSP00000340554.6:p.Glu22703Gln
ENST00000342992.10:c.87022G>C (TTN) ENSP00000343764.6:p.Glu29008Gln
ENST00000359218.9:c.67906G>C (TTN) ENSP00000352154.5:p.Glu22636Gln
ENST00000460472.6:c.67531G>C (TTN) ENSP00000434586.1:p.Glu22511Gln
ENST00000589042.5:c.94726G>C (TTN) MANE Select ENSP00000467141.1:p.Glu31576Gln
ENST00000591111.5:c.89803G>C (TTN) ENSP00000465570.1:p.Glu29935Gln
ENST00000615779.4:c.89803G>C (TTN) ENSP00000483597.1:p.Glu29935Gln
NM_001256850.1:c.89803G>C (TTN) NP_001243779.1:p.Glu29935Gln
NM_001267550.2:c.94726G>C (TTN) MANE Select NP_001254479.2:p.Glu31576Gln
NM_003319.4:c.67531G>C (TTN) NP_003310.4:p.Glu22511Gln
NM_133378.4:c.87022G>C (TTN) NP_596869.4:p.Glu29008Gln
NM_133432.3:c.67906G>C (TTN) NP_597676.3:p.Glu22636Gln
NM_133437.4:c.68107G>C (TTN) NP_597681.4:p.Glu22703Gln
NR_038271.1:n.446+23066C>G (TTN-AS1)
NR_038272.1:n.2043+4341C>G (TTN-AS1)
XM_011511729.1:c.93823G>C (TTN) XP_011510031.1:p.Glu31275Gln
XM_011511730.1:c.67717G>C (TTN) XP_011510032.1:p.Glu22573Gln
XM_011511731.1:c.67576G>C (TTN) XP_011510033.1:p.Glu22526Gln
XM_017004819.1:c.93619G>C (TTN) XP_016860308.1:p.Glu31207Gln
XM_017004820.1:c.89017G>C (TTN) XP_016860309.1:p.Glu29673Gln
XM_017004821.1:c.89014G>C (TTN) XP_016860310.1:p.Glu29672Gln
XM_017004822.1:c.86056G>C (TTN) XP_016860311.1:p.Glu28686Gln
XM_017004823.1:c.67672G>C (TTN) XP_016860312.1:p.Glu22558Gln
XM_024453094.1:c.89167G>C (TTN) XP_024308862.1:p.Glu29723Gln
XM_024453095.1:c.89164G>C (TTN) XP_024308863.1:p.Glu29722Gln
XM_024453096.1:c.88597G>C (TTN) XP_024308864.1:p.Glu29533Gln
XM_024453097.1:c.85939G>C (TTN) XP_024308865.1:p.Glu28647Gln
XM_024453098.1:c.85858G>C (TTN) XP_024308866.1:p.Glu28620Gln
XM_024453099.1:c.67621G>C (TTN) XP_024308867.1:p.Glu22541Gln
XM_024453100.1:c.57475G>C (TTN) XP_024308868.1:p.Glu19159Gln