Canonical Allele Identifier: CA349581121

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564515A>C , CM000664.2:g.178564515A>C GRCh38
NC_000002.11:g.179429242A>C , CM000664.1:g.179429242A>C GRCh37
NC_000002.10:g.179137488A>C NCBI36
NG_011618.3:g.271288T>G , LRG_391:g.271288T>G
NG_051363.1:g.46689A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73913T>G (TTN) ENSP00000343764.6:p.Ile24638Ser
ENST00000342175.11:c.54998T>G (TTN) ENSP00000340554.6:p.Ile18333Ser
ENST00000359218.10:c.54797T>G (TTN) ENSP00000352154.5:p.Ile18266Ser
ENST00000342175.10:c.54998T>G (TTN) ENSP00000340554.6:p.Ile18333Ser
ENST00000342992.10:c.73913T>G (TTN) ENSP00000343764.6:p.Ile24638Ser
ENST00000359218.9:c.54797T>G (TTN) ENSP00000352154.5:p.Ile18266Ser
ENST00000460472.6:c.54422T>G (TTN) ENSP00000434586.1:p.Ile18141Ser
ENST00000589042.5:c.81617T>G (TTN) MANE Select ENSP00000467141.1:p.Ile27206Ser
ENST00000591111.5:c.76694T>G (TTN) ENSP00000465570.1:p.Ile25565Ser
ENST00000615779.4:c.76694T>G (TTN) ENSP00000483597.1:p.Ile25565Ser
NM_001256850.1:c.76694T>G (TTN) NP_001243779.1:p.Ile25565Ser
NM_001267550.2:c.81617T>G (TTN) MANE Select NP_001254479.2:p.Ile27206Ser
NM_003319.4:c.54422T>G (TTN) NP_003310.4:p.Ile18141Ser
NM_133378.4:c.73913T>G (TTN) NP_596869.4:p.Ile24638Ser
NM_133432.3:c.54797T>G (TTN) NP_597676.3:p.Ile18266Ser
NM_133437.4:c.54998T>G (TTN) NP_597681.4:p.Ile18333Ser
NR_038271.1:n.447-6785A>C (TTN-AS1)
NR_038272.1:n.2044-18057A>C (TTN-AS1)
XM_011511729.1:c.80714T>G (TTN) XP_011510031.1:p.Ile26905Ser
XM_011511730.1:c.54608T>G (TTN) XP_011510032.1:p.Ile18203Ser
XM_011511731.1:c.54467T>G (TTN) XP_011510033.1:p.Ile18156Ser
XM_017004819.1:c.80510T>G (TTN) XP_016860308.1:p.Ile26837Ser
XM_017004820.1:c.75908T>G (TTN) XP_016860309.1:p.Ile25303Ser
XM_017004821.1:c.75905T>G (TTN) XP_016860310.1:p.Ile25302Ser
XM_017004822.1:c.72947T>G (TTN) XP_016860311.1:p.Ile24316Ser
XM_017004823.1:c.54563T>G (TTN) XP_016860312.1:p.Ile18188Ser
XM_024453094.1:c.76058T>G (TTN) XP_024308862.1:p.Ile25353Ser
XM_024453095.1:c.76055T>G (TTN) XP_024308863.1:p.Ile25352Ser
XM_024453096.1:c.75488T>G (TTN) XP_024308864.1:p.Ile25163Ser
XM_024453097.1:c.72830T>G (TTN) XP_024308865.1:p.Ile24277Ser
XM_024453098.1:c.72749T>G (TTN) XP_024308866.1:p.Ile24250Ser
XM_024453099.1:c.54512T>G (TTN) XP_024308867.1:p.Ile18171Ser
XM_024453100.1:c.44366T>G (TTN) XP_024308868.1:p.Ile14789Ser