Canonical Allele Identifier: CA349405426

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530077T>G , CM000664.2:g.178530077T>G GRCh38
NC_000002.11:g.179394804T>G , CM000664.1:g.179394804T>G GRCh37
NC_000002.10:g.179103050T>G NCBI36
NG_011618.3:g.305726A>C , LRG_391:g.305726A>C
NG_051363.1:g.12251T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98710A>C (TTN) ENSP00000343764.6:p.Lys32904Gln
ENST00000342175.11:c.79795A>C (TTN) ENSP00000340554.6:p.Lys26599Gln
ENST00000359218.10:c.79594A>C (TTN) ENSP00000352154.5:p.Lys26532Gln
ENST00000342175.10:c.79795A>C (TTN) ENSP00000340554.6:p.Lys26599Gln
ENST00000342992.10:c.98710A>C (TTN) ENSP00000343764.6:p.Lys32904Gln
ENST00000359218.9:c.79594A>C (TTN) ENSP00000352154.5:p.Lys26532Gln
ENST00000460472.6:c.79219A>C (TTN) ENSP00000434586.1:p.Lys26407Gln
ENST00000589042.5:c.106414A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35472Gln
ENST00000591111.5:c.101491A>C (TTN) ENSP00000465570.1:p.Lys33831Gln
ENST00000615779.4:c.101491A>C (TTN) ENSP00000483597.1:p.Lys33831Gln
NM_001256850.1:c.101491A>C (TTN) NP_001243779.1:p.Lys33831Gln
NM_001267550.2:c.106414A>C (TTN) MANE Select NP_001254479.2:p.Lys35472Gln
NM_003319.4:c.79219A>C (TTN) NP_003310.4:p.Lys26407Gln
NM_133378.4:c.98710A>C (TTN) NP_596869.4:p.Lys32904Gln
NM_133432.3:c.79594A>C (TTN) NP_597676.3:p.Lys26532Gln
NM_133437.4:c.79795A>C (TTN) NP_597681.4:p.Lys26599Gln
NR_038271.1:n.446+6441T>G (TTN-AS1)
NR_038272.1:n.220-5655T>G (TTN-AS1)
XM_011511729.1:c.105511A>C (TTN) XP_011510031.1:p.Lys35171Gln
XM_011511730.1:c.79405A>C (TTN) XP_011510032.1:p.Lys26469Gln
XM_011511731.1:c.79264A>C (TTN) XP_011510033.1:p.Lys26422Gln
XM_017004819.1:c.105307A>C (TTN) XP_016860308.1:p.Lys35103Gln
XM_017004820.1:c.100705A>C (TTN) XP_016860309.1:p.Lys33569Gln
XM_017004821.1:c.100702A>C (TTN) XP_016860310.1:p.Lys33568Gln
XM_017004822.1:c.97744A>C (TTN) XP_016860311.1:p.Lys32582Gln
XM_017004823.1:c.79360A>C (TTN) XP_016860312.1:p.Lys26454Gln
XM_024453094.1:c.100855A>C (TTN) XP_024308862.1:p.Lys33619Gln
XM_024453095.1:c.100852A>C (TTN) XP_024308863.1:p.Lys33618Gln
XM_024453096.1:c.100285A>C (TTN) XP_024308864.1:p.Lys33429Gln
XM_024453097.1:c.97627A>C (TTN) XP_024308865.1:p.Lys32543Gln
XM_024453098.1:c.97546A>C (TTN) XP_024308866.1:p.Lys32516Gln
XM_024453099.1:c.79309A>C (TTN) XP_024308867.1:p.Lys26437Gln
XM_024453100.1:c.69163A>C (TTN) XP_024308868.1:p.Lys23055Gln