Canonical Allele Identifier: CA349407325

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530645T>G , CM000664.2:g.178530645T>G GRCh38
NC_000002.11:g.179395372T>G , CM000664.1:g.179395372T>G GRCh37
NC_000002.10:g.179103618T>G NCBI36
NG_011618.3:g.305158A>C , LRG_391:g.305158A>C
NG_051363.1:g.12819T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98266A>C (TTN) ENSP00000343764.6:p.Lys32756Gln
ENST00000342175.11:c.79351A>C (TTN) ENSP00000340554.6:p.Lys26451Gln
ENST00000359218.10:c.79150A>C (TTN) ENSP00000352154.5:p.Lys26384Gln
ENST00000342175.10:c.79351A>C (TTN) ENSP00000340554.6:p.Lys26451Gln
ENST00000342992.10:c.98266A>C (TTN) ENSP00000343764.6:p.Lys32756Gln
ENST00000359218.9:c.79150A>C (TTN) ENSP00000352154.5:p.Lys26384Gln
ENST00000460472.6:c.78775A>C (TTN) ENSP00000434586.1:p.Lys26259Gln
ENST00000589042.5:c.105970A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35324Gln
ENST00000591111.5:c.101047A>C (TTN) ENSP00000465570.1:p.Lys33683Gln
ENST00000615779.4:c.101047A>C (TTN) ENSP00000483597.1:p.Lys33683Gln
NM_001256850.1:c.101047A>C (TTN) NP_001243779.1:p.Lys33683Gln
NM_001267550.2:c.105970A>C (TTN) MANE Select NP_001254479.2:p.Lys35324Gln
NM_003319.4:c.78775A>C (TTN) NP_003310.4:p.Lys26259Gln
NM_133378.4:c.98266A>C (TTN) NP_596869.4:p.Lys32756Gln
NM_133432.3:c.79150A>C (TTN) NP_597676.3:p.Lys26384Gln
NM_133437.4:c.79351A>C (TTN) NP_597681.4:p.Lys26451Gln
NR_038271.1:n.446+7009T>G (TTN-AS1)
NR_038272.1:n.220-5087T>G (TTN-AS1)
XM_011511729.1:c.105067A>C (TTN) XP_011510031.1:p.Lys35023Gln
XM_011511730.1:c.78961A>C (TTN) XP_011510032.1:p.Lys26321Gln
XM_011511731.1:c.78820A>C (TTN) XP_011510033.1:p.Lys26274Gln
XM_017004819.1:c.104863A>C (TTN) XP_016860308.1:p.Lys34955Gln
XM_017004820.1:c.100261A>C (TTN) XP_016860309.1:p.Lys33421Gln
XM_017004821.1:c.100258A>C (TTN) XP_016860310.1:p.Lys33420Gln
XM_017004822.1:c.97300A>C (TTN) XP_016860311.1:p.Lys32434Gln
XM_017004823.1:c.78916A>C (TTN) XP_016860312.1:p.Lys26306Gln
XM_024453094.1:c.100411A>C (TTN) XP_024308862.1:p.Lys33471Gln
XM_024453095.1:c.100408A>C (TTN) XP_024308863.1:p.Lys33470Gln
XM_024453096.1:c.99841A>C (TTN) XP_024308864.1:p.Lys33281Gln
XM_024453097.1:c.97183A>C (TTN) XP_024308865.1:p.Lys32395Gln
XM_024453098.1:c.97102A>C (TTN) XP_024308866.1:p.Lys32368Gln
XM_024453099.1:c.78865A>C (TTN) XP_024308867.1:p.Lys26289Gln
XM_024453100.1:c.68719A>C (TTN) XP_024308868.1:p.Lys22907Gln