Canonical Allele Identifier: CA349488575

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591894T>G , CM000664.2:g.178591894T>G GRCh38
NC_000002.11:g.179456621T>G , CM000664.1:g.179456621T>G GRCh37
NC_000002.10:g.179164867T>G NCBI36
NG_011618.3:g.243909A>C , LRG_391:g.243909A>C
NG_051363.1:g.74068T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.52223-2A>C (TTN) ENSP00000343764.6:n.52223-2A>C
ENST00000342175.11:c.33308-2A>C (TTN) ENSP00000340554.6:n.33308-2A>C
ENST00000359218.10:c.33107-2A>C (TTN) ENSP00000352154.5:n.33107-2A>C
ENST00000342175.10:c.33308-2A>C (TTN) ENSP00000340554.6:n.33308-2A>C
ENST00000342992.10:c.52223-2A>C (TTN) ENSP00000343764.6:n.52223-2A>C
ENST00000359218.9:c.33107-2A>C (TTN) ENSP00000352154.5:n.33107-2A>C
ENST00000460472.6:c.32732-2A>C (TTN) ENSP00000434586.1:n.32732-2A>C
ENST00000589042.5:c.59927-2A>C (TTN) MANE Select ENSP00000467141.1:n.59927-2A>C
ENST00000591111.5:c.55004-2A>C (TTN) ENSP00000465570.1:n.55004-2A>C
ENST00000615779.4:c.55004-2A>C (TTN) ENSP00000483597.1:n.55004-2A>C
NM_001256850.1:c.55004-2A>C (TTN) NP_001243779.1:n.55004-2A>C
NM_001267550.2:c.59927-2A>C (TTN) MANE Select NP_001254479.2:n.59927-2A>C
NM_003319.4:c.32732-2A>C (TTN) NP_003310.4:n.32732-2A>C
NM_133378.4:c.52223-2A>C (TTN) NP_596869.4:n.52223-2A>C
NM_133432.3:c.33107-2A>C (TTN) NP_597676.3:n.33107-2A>C
NM_133437.4:c.33308-2A>C (TTN) NP_597681.4:n.33308-2A>C
NR_038271.1:n.597-5702T>G (TTN-AS1)
NR_038272.1:n.3364+580T>G (TTN-AS1)
XM_011511729.1:c.59024-2A>C (TTN) XP_011510031.1:n.59024-2A>C
XM_011511730.1:c.32918-2A>C (TTN) XP_011510032.1:n.32918-2A>C
XM_011511731.1:c.32777-2A>C (TTN) XP_011510033.1:n.32777-2A>C
XM_017004819.1:c.58820-2A>C (TTN) XP_016860308.1:n.58820-2A>C
XM_017004820.1:c.54218-2A>C (TTN) XP_016860309.1:n.54218-2A>C
XM_017004821.1:c.54215-2A>C (TTN) XP_016860310.1:n.54215-2A>C
XM_017004822.1:c.51257-2A>C (TTN) XP_016860311.1:n.51257-2A>C
XM_017004823.1:c.32873-2A>C (TTN) XP_016860312.1:n.32873-2A>C
XM_024453094.1:c.54368-2A>C (TTN) XP_024308862.1:n.54368-2A>C
XM_024453095.1:c.54365-2A>C (TTN) XP_024308863.1:n.54365-2A>C
XM_024453096.1:c.53798-2A>C (TTN) XP_024308864.1:n.53798-2A>C
XM_024453097.1:c.51140-2A>C (TTN) XP_024308865.1:n.51140-2A>C
XM_024453098.1:c.51059-2A>C (TTN) XP_024308866.1:n.51059-2A>C
XM_024453099.1:c.32822-2A>C (TTN) XP_024308867.1:n.32822-2A>C
XM_024453100.1:c.22676-2A>C (TTN) XP_024308868.1:n.22676-2A>C