Canonical Allele Identifier: CA349398660

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527133T>G , CM000664.2:g.178527133T>G GRCh38
NC_000002.11:g.179391860T>G , CM000664.1:g.179391860T>G GRCh37
NC_000002.10:g.179100106T>G NCBI36
NG_011618.3:g.308670A>C , LRG_391:g.308670A>C
NG_051363.1:g.9307T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100151A>C (TTN) ENSP00000343764.6:p.Asp33384Ala
ENST00000342175.11:c.81236A>C (TTN) ENSP00000340554.6:p.Asp27079Ala
ENST00000359218.10:c.81035A>C (TTN) ENSP00000352154.5:p.Asp27012Ala
ENST00000342175.10:c.81236A>C (TTN) ENSP00000340554.6:p.Asp27079Ala
ENST00000342992.10:c.100151A>C (TTN) ENSP00000343764.6:p.Asp33384Ala
ENST00000359218.9:c.81035A>C (TTN) ENSP00000352154.5:p.Asp27012Ala
ENST00000460472.6:c.80660A>C (TTN) ENSP00000434586.1:p.Asp26887Ala
ENST00000589042.5:c.107855A>C (TTN) MANE Select ENSP00000467141.1:p.Asp35952Ala
ENST00000591111.5:c.102932A>C (TTN) ENSP00000465570.1:p.Asp34311Ala
ENST00000615779.4:c.102932A>C (TTN) ENSP00000483597.1:p.Asp34311Ala
NM_001256850.1:c.102932A>C (TTN) NP_001243779.1:p.Asp34311Ala
NM_001267550.2:c.107855A>C (TTN) MANE Select NP_001254479.2:p.Asp35952Ala
NM_003319.4:c.80660A>C (TTN) NP_003310.4:p.Asp26887Ala
NM_133378.4:c.100151A>C (TTN) NP_596869.4:p.Asp33384Ala
NM_133432.3:c.81035A>C (TTN) NP_597676.3:p.Asp27012Ala
NM_133437.4:c.81236A>C (TTN) NP_597681.4:p.Asp27079Ala
NR_038271.1:n.446+3497T>G (TTN-AS1)
NR_038272.1:n.219+3497T>G (TTN-AS1)
XM_011511729.1:c.106952A>C (TTN) XP_011510031.1:p.Asp35651Ala
XM_011511730.1:c.80846A>C (TTN) XP_011510032.1:p.Asp26949Ala
XM_011511731.1:c.80705A>C (TTN) XP_011510033.1:p.Asp26902Ala
XM_017004819.1:c.106748A>C (TTN) XP_016860308.1:p.Asp35583Ala
XM_017004820.1:c.102146A>C (TTN) XP_016860309.1:p.Asp34049Ala
XM_017004821.1:c.102143A>C (TTN) XP_016860310.1:p.Asp34048Ala
XM_017004822.1:c.99185A>C (TTN) XP_016860311.1:p.Asp33062Ala
XM_017004823.1:c.80801A>C (TTN) XP_016860312.1:p.Asp26934Ala
XM_024453094.1:c.102296A>C (TTN) XP_024308862.1:p.Asp34099Ala
XM_024453095.1:c.102293A>C (TTN) XP_024308863.1:p.Asp34098Ala
XM_024453096.1:c.101726A>C (TTN) XP_024308864.1:p.Asp33909Ala
XM_024453097.1:c.99068A>C (TTN) XP_024308865.1:p.Asp33023Ala
XM_024453098.1:c.98987A>C (TTN) XP_024308866.1:p.Asp32996Ala
XM_024453099.1:c.80750A>C (TTN) XP_024308867.1:p.Asp26917Ala
XM_024453100.1:c.70604A>C (TTN) XP_024308868.1:p.Asp23535Ala