Canonical Allele Identifier: CA349423354

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579576C>G , CM000664.2:g.178579576C>G GRCh38
NC_000002.11:g.179444303C>G , CM000664.1:g.179444303C>G GRCh37
NC_000002.10:g.179152549C>G NCBI36
NG_011618.3:g.256227G>C , LRG_391:g.256227G>C
NG_051363.1:g.61750C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59917G>C (TTN) ENSP00000343764.6:p.Ala19973Pro
ENST00000342175.11:c.41002G>C (TTN) ENSP00000340554.6:p.Ala13668Pro
ENST00000359218.10:c.40801G>C (TTN) ENSP00000352154.5:p.Ala13601Pro
ENST00000342175.10:c.41002G>C (TTN) ENSP00000340554.6:p.Ala13668Pro
ENST00000342992.10:c.59917G>C (TTN) ENSP00000343764.6:p.Ala19973Pro
ENST00000359218.9:c.40801G>C (TTN) ENSP00000352154.5:p.Ala13601Pro
ENST00000460472.6:c.40426G>C (TTN) ENSP00000434586.1:p.Ala13476Pro
ENST00000589042.5:c.67621G>C (TTN) MANE Select ENSP00000467141.1:p.Ala22541Pro
ENST00000591111.5:c.62698G>C (TTN) ENSP00000465570.1:p.Ala20900Pro
ENST00000615779.4:c.62698G>C (TTN) ENSP00000483597.1:p.Ala20900Pro
NM_001256850.1:c.62698G>C (TTN) NP_001243779.1:p.Ala20900Pro
NM_001267550.2:c.67621G>C (TTN) MANE Select NP_001254479.2:p.Ala22541Pro
NM_003319.4:c.40426G>C (TTN) NP_003310.4:p.Ala13476Pro
NM_133378.4:c.59917G>C (TTN) NP_596869.4:p.Ala19973Pro
NM_133432.3:c.40801G>C (TTN) NP_597676.3:p.Ala13601Pro
NM_133437.4:c.41002G>C (TTN) NP_597681.4:p.Ala13668Pro
NR_038271.1:n.596+8127C>G (TTN-AS1)
NR_038272.1:n.2044-2996C>G (TTN-AS1)
XM_011511729.1:c.66718G>C (TTN) XP_011510031.1:p.Ala22240Pro
XM_011511730.1:c.40612G>C (TTN) XP_011510032.1:p.Ala13538Pro
XM_011511731.1:c.40471G>C (TTN) XP_011510033.1:p.Ala13491Pro
XM_017004819.1:c.66514G>C (TTN) XP_016860308.1:p.Ala22172Pro
XM_017004820.1:c.61912G>C (TTN) XP_016860309.1:p.Ala20638Pro
XM_017004821.1:c.61909G>C (TTN) XP_016860310.1:p.Ala20637Pro
XM_017004822.1:c.58951G>C (TTN) XP_016860311.1:p.Ala19651Pro
XM_017004823.1:c.40567G>C (TTN) XP_016860312.1:p.Ala13523Pro
XM_024453094.1:c.62062G>C (TTN) XP_024308862.1:p.Ala20688Pro
XM_024453095.1:c.62059G>C (TTN) XP_024308863.1:p.Ala20687Pro
XM_024453096.1:c.61492G>C (TTN) XP_024308864.1:p.Ala20498Pro
XM_024453097.1:c.58834G>C (TTN) XP_024308865.1:p.Ala19612Pro
XM_024453098.1:c.58753G>C (TTN) XP_024308866.1:p.Ala19585Pro
XM_024453099.1:c.40516G>C (TTN) XP_024308867.1:p.Ala13506Pro
XM_024453100.1:c.30370G>C (TTN) XP_024308868.1:p.Ala10124Pro