Canonical Allele Identifier: CA349406188

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530306C>G , CM000664.2:g.178530306C>G GRCh38
NC_000002.11:g.179395033C>G , CM000664.1:g.179395033C>G GRCh37
NC_000002.10:g.179103279C>G NCBI36
NG_011618.3:g.305497G>C , LRG_391:g.305497G>C
NG_051363.1:g.12480C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.98605G>C (TTN) ENSP00000343764.6:p.Ala32869Pro
ENST00000342175.11:c.79690G>C (TTN) ENSP00000340554.6:p.Ala26564Pro
ENST00000359218.10:c.79489G>C (TTN) ENSP00000352154.5:p.Ala26497Pro
ENST00000342175.10:c.79690G>C (TTN) ENSP00000340554.6:p.Ala26564Pro
ENST00000342992.10:c.98605G>C (TTN) ENSP00000343764.6:p.Ala32869Pro
ENST00000359218.9:c.79489G>C (TTN) ENSP00000352154.5:p.Ala26497Pro
ENST00000460472.6:c.79114G>C (TTN) ENSP00000434586.1:p.Ala26372Pro
ENST00000589042.5:c.106309G>C (TTN) MANE Select ENSP00000467141.1:p.Ala35437Pro
ENST00000591111.5:c.101386G>C (TTN) ENSP00000465570.1:p.Ala33796Pro
ENST00000615779.4:c.101386G>C (TTN) ENSP00000483597.1:p.Ala33796Pro
NM_001256850.1:c.101386G>C (TTN) NP_001243779.1:p.Ala33796Pro
NM_001267550.2:c.106309G>C (TTN) MANE Select NP_001254479.2:p.Ala35437Pro
NM_003319.4:c.79114G>C (TTN) NP_003310.4:p.Ala26372Pro
NM_133378.4:c.98605G>C (TTN) NP_596869.4:p.Ala32869Pro
NM_133432.3:c.79489G>C (TTN) NP_597676.3:p.Ala26497Pro
NM_133437.4:c.79690G>C (TTN) NP_597681.4:p.Ala26564Pro
NR_038271.1:n.446+6670C>G (TTN-AS1)
NR_038272.1:n.220-5426C>G (TTN-AS1)
XM_011511729.1:c.105406G>C (TTN) XP_011510031.1:p.Ala35136Pro
XM_011511730.1:c.79300G>C (TTN) XP_011510032.1:p.Ala26434Pro
XM_011511731.1:c.79159G>C (TTN) XP_011510033.1:p.Ala26387Pro
XM_017004819.1:c.105202G>C (TTN) XP_016860308.1:p.Ala35068Pro
XM_017004820.1:c.100600G>C (TTN) XP_016860309.1:p.Ala33534Pro
XM_017004821.1:c.100597G>C (TTN) XP_016860310.1:p.Ala33533Pro
XM_017004822.1:c.97639G>C (TTN) XP_016860311.1:p.Ala32547Pro
XM_017004823.1:c.79255G>C (TTN) XP_016860312.1:p.Ala26419Pro
XM_024453094.1:c.100750G>C (TTN) XP_024308862.1:p.Ala33584Pro
XM_024453095.1:c.100747G>C (TTN) XP_024308863.1:p.Ala33583Pro
XM_024453096.1:c.100180G>C (TTN) XP_024308864.1:p.Ala33394Pro
XM_024453097.1:c.97522G>C (TTN) XP_024308865.1:p.Ala32508Pro
XM_024453098.1:c.97441G>C (TTN) XP_024308866.1:p.Ala32481Pro
XM_024453099.1:c.79204G>C (TTN) XP_024308867.1:p.Ala26402Pro
XM_024453100.1:c.69058G>C (TTN) XP_024308868.1:p.Ala23020Pro