Canonical Allele Identifier: CA349424707

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580330T>A , CM000664.2:g.178580330T>A GRCh38
NC_000002.11:g.179445057T>A , CM000664.1:g.179445057T>A GRCh37
NC_000002.10:g.179153303T>A NCBI36
NG_011618.3:g.255473A>T , LRG_391:g.255473A>T
NG_051363.1:g.62504T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59345A>T (TTN) ENSP00000343764.6:p.Lys19782Ile
ENST00000342175.11:c.40430A>T (TTN) ENSP00000340554.6:p.Lys13477Ile
ENST00000359218.10:c.40229A>T (TTN) ENSP00000352154.5:p.Lys13410Ile
ENST00000342175.10:c.40430A>T (TTN) ENSP00000340554.6:p.Lys13477Ile
ENST00000342992.10:c.59345A>T (TTN) ENSP00000343764.6:p.Lys19782Ile
ENST00000359218.9:c.40229A>T (TTN) ENSP00000352154.5:p.Lys13410Ile
ENST00000460472.6:c.39854A>T (TTN) ENSP00000434586.1:p.Lys13285Ile
ENST00000589042.5:c.67049A>T (TTN) MANE Select ENSP00000467141.1:p.Lys22350Ile
ENST00000591111.5:c.62126A>T (TTN) ENSP00000465570.1:p.Lys20709Ile
ENST00000615779.4:c.62126A>T (TTN) ENSP00000483597.1:p.Lys20709Ile
NM_001256850.1:c.62126A>T (TTN) NP_001243779.1:p.Lys20709Ile
NM_001267550.2:c.67049A>T (TTN) MANE Select NP_001254479.2:p.Lys22350Ile
NM_003319.4:c.39854A>T (TTN) NP_003310.4:p.Lys13285Ile
NM_133378.4:c.59345A>T (TTN) NP_596869.4:p.Lys19782Ile
NM_133432.3:c.40229A>T (TTN) NP_597676.3:p.Lys13410Ile
NM_133437.4:c.40430A>T (TTN) NP_597681.4:p.Lys13477Ile
NR_038271.1:n.596+8881T>A (TTN-AS1)
NR_038272.1:n.2044-2242T>A (TTN-AS1)
XM_011511729.1:c.66146A>T (TTN) XP_011510031.1:p.Lys22049Ile
XM_011511730.1:c.40040A>T (TTN) XP_011510032.1:p.Lys13347Ile
XM_011511731.1:c.39899A>T (TTN) XP_011510033.1:p.Lys13300Ile
XM_017004819.1:c.65942A>T (TTN) XP_016860308.1:p.Lys21981Ile
XM_017004820.1:c.61340A>T (TTN) XP_016860309.1:p.Lys20447Ile
XM_017004821.1:c.61337A>T (TTN) XP_016860310.1:p.Lys20446Ile
XM_017004822.1:c.58379A>T (TTN) XP_016860311.1:p.Lys19460Ile
XM_017004823.1:c.39995A>T (TTN) XP_016860312.1:p.Lys13332Ile
XM_024453094.1:c.61490A>T (TTN) XP_024308862.1:p.Lys20497Ile
XM_024453095.1:c.61487A>T (TTN) XP_024308863.1:p.Lys20496Ile
XM_024453096.1:c.60920A>T (TTN) XP_024308864.1:p.Lys20307Ile
XM_024453097.1:c.58262A>T (TTN) XP_024308865.1:p.Lys19421Ile
XM_024453098.1:c.58181A>T (TTN) XP_024308866.1:p.Lys19394Ile
XM_024453099.1:c.39944A>T (TTN) XP_024308867.1:p.Lys13315Ile
XM_024453100.1:c.29798A>T (TTN) XP_024308868.1:p.Lys9933Ile