Canonical Allele Identifier: CA60953489

Linked Data

dbSNP Id: rs954008658

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530584A>G , CM000664.2:g.178530584A>G GRCh38
NC_000002.11:g.179395311A>G , CM000664.1:g.179395311A>G GRCh37
NC_000002.10:g.179103557A>G NCBI36
NG_011618.3:g.305219T>C , LRG_391:g.305219T>C
NG_051363.1:g.12758A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98327T>C (TTN) ENSP00000343764.6:p.Leu32776Pro
ENST00000342175.11:c.79412T>C (TTN) ENSP00000340554.6:p.Leu26471Pro
ENST00000359218.10:c.79211T>C (TTN) ENSP00000352154.5:p.Leu26404Pro
ENST00000342175.10:c.79412T>C (TTN) ENSP00000340554.6:p.Leu26471Pro
ENST00000342992.10:c.98327T>C (TTN) ENSP00000343764.6:p.Leu32776Pro
ENST00000359218.9:c.79211T>C (TTN) ENSP00000352154.5:p.Leu26404Pro
ENST00000460472.6:c.78836T>C (TTN) ENSP00000434586.1:p.Leu26279Pro
ENST00000589042.5:c.106031T>C (TTN) MANE Select ENSP00000467141.1:p.Leu35344Pro
ENST00000591111.5:c.101108T>C (TTN) ENSP00000465570.1:p.Leu33703Pro
ENST00000615779.4:c.101108T>C (TTN) ENSP00000483597.1:p.Leu33703Pro
NM_001256850.1:c.101108T>C (TTN) NP_001243779.1:p.Leu33703Pro
NM_001267550.2:c.106031T>C (TTN) MANE Select NP_001254479.2:p.Leu35344Pro
NM_003319.4:c.78836T>C (TTN) NP_003310.4:p.Leu26279Pro
NM_133378.4:c.98327T>C (TTN) NP_596869.4:p.Leu32776Pro
NM_133432.3:c.79211T>C (TTN) NP_597676.3:p.Leu26404Pro
NM_133437.4:c.79412T>C (TTN) NP_597681.4:p.Leu26471Pro
NR_038271.1:n.446+6948A>G (TTN-AS1)
NR_038272.1:n.220-5148A>G (TTN-AS1)
XM_011511729.1:c.105128T>C (TTN) XP_011510031.1:p.Leu35043Pro
XM_011511730.1:c.79022T>C (TTN) XP_011510032.1:p.Leu26341Pro
XM_011511731.1:c.78881T>C (TTN) XP_011510033.1:p.Leu26294Pro
XM_017004819.1:c.104924T>C (TTN) XP_016860308.1:p.Leu34975Pro
XM_017004820.1:c.100322T>C (TTN) XP_016860309.1:p.Leu33441Pro
XM_017004821.1:c.100319T>C (TTN) XP_016860310.1:p.Leu33440Pro
XM_017004822.1:c.97361T>C (TTN) XP_016860311.1:p.Leu32454Pro
XM_017004823.1:c.78977T>C (TTN) XP_016860312.1:p.Leu26326Pro
XM_024453094.1:c.100472T>C (TTN) XP_024308862.1:p.Leu33491Pro
XM_024453095.1:c.100469T>C (TTN) XP_024308863.1:p.Leu33490Pro
XM_024453096.1:c.99902T>C (TTN) XP_024308864.1:p.Leu33301Pro
XM_024453097.1:c.97244T>C (TTN) XP_024308865.1:p.Leu32415Pro
XM_024453098.1:c.97163T>C (TTN) XP_024308866.1:p.Leu32388Pro
XM_024453099.1:c.78926T>C (TTN) XP_024308867.1:p.Leu26309Pro
XM_024453100.1:c.68780T>C (TTN) XP_024308868.1:p.Leu22927Pro