Canonical Allele Identifier: CA349434756

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539951T>C , CM000664.2:g.178539951T>C GRCh38
NC_000002.11:g.179404678T>C , CM000664.1:g.179404678T>C GRCh37
NC_000002.10:g.179112924T>C NCBI36
NG_011618.3:g.295852A>G , LRG_391:g.295852A>G
NG_051363.1:g.22125T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90410A>G (TTN) ENSP00000343764.6:p.Glu30137Gly
ENST00000342175.11:c.71495A>G (TTN) ENSP00000340554.6:p.Glu23832Gly
ENST00000359218.10:c.71294A>G (TTN) ENSP00000352154.5:p.Glu23765Gly
ENST00000342175.10:c.71495A>G (TTN) ENSP00000340554.6:p.Glu23832Gly
ENST00000342992.10:c.90410A>G (TTN) ENSP00000343764.6:p.Glu30137Gly
ENST00000359218.9:c.71294A>G (TTN) ENSP00000352154.5:p.Glu23765Gly
ENST00000460472.6:c.70919A>G (TTN) ENSP00000434586.1:p.Glu23640Gly
ENST00000589042.5:c.98114A>G (TTN) MANE Select ENSP00000467141.1:p.Glu32705Gly
ENST00000591111.5:c.93191A>G (TTN) ENSP00000465570.1:p.Glu31064Gly
ENST00000615779.4:c.93191A>G (TTN) ENSP00000483597.1:p.Glu31064Gly
NM_001256850.1:c.93191A>G (TTN) NP_001243779.1:p.Glu31064Gly
NM_001267550.2:c.98114A>G (TTN) MANE Select NP_001254479.2:p.Glu32705Gly
NM_003319.4:c.70919A>G (TTN) NP_003310.4:p.Glu23640Gly
NM_133378.4:c.90410A>G (TTN) NP_596869.4:p.Glu30137Gly
NM_133432.3:c.71294A>G (TTN) NP_597676.3:p.Glu23765Gly
NM_133437.4:c.71495A>G (TTN) NP_597681.4:p.Glu23832Gly
NR_038271.1:n.446+16315T>C (TTN-AS1)
NR_038272.1:n.1840+61T>C (TTN-AS1)
XM_011511729.1:c.97211A>G (TTN) XP_011510031.1:p.Glu32404Gly
XM_011511730.1:c.71105A>G (TTN) XP_011510032.1:p.Glu23702Gly
XM_011511731.1:c.70964A>G (TTN) XP_011510033.1:p.Glu23655Gly
XM_017004819.1:c.97007A>G (TTN) XP_016860308.1:p.Glu32336Gly
XM_017004820.1:c.92405A>G (TTN) XP_016860309.1:p.Glu30802Gly
XM_017004821.1:c.92402A>G (TTN) XP_016860310.1:p.Glu30801Gly
XM_017004822.1:c.89444A>G (TTN) XP_016860311.1:p.Glu29815Gly
XM_017004823.1:c.71060A>G (TTN) XP_016860312.1:p.Glu23687Gly
XM_024453094.1:c.92555A>G (TTN) XP_024308862.1:p.Glu30852Gly
XM_024453095.1:c.92552A>G (TTN) XP_024308863.1:p.Glu30851Gly
XM_024453096.1:c.91985A>G (TTN) XP_024308864.1:p.Glu30662Gly
XM_024453097.1:c.89327A>G (TTN) XP_024308865.1:p.Glu29776Gly
XM_024453098.1:c.89246A>G (TTN) XP_024308866.1:p.Glu29749Gly
XM_024453099.1:c.71009A>G (TTN) XP_024308867.1:p.Glu23670Gly
XM_024453100.1:c.60863A>G (TTN) XP_024308868.1:p.Glu20288Gly