Canonical Allele Identifier: CA1994917
Community Standard Title: NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178616790A>G , CM000664.2:g.178616790A>G GRCh38
NC_000002.11:g.179481517A>G , CM000664.1:g.179481517A>G GRCh37
NC_000002.10:g.179189762A>G NCBI36
NG_011618.3:g.219013T>C , LRG_391:g.219013T>C
NG_051363.1:g.98964A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48099T>C (TTN) MANE Select NP_001254479.2:p.Tyr16033=
ENST00000589042.5:c.48099T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr16033=
NM_001256850.1:c.43176T>C (TTN) NP_001243779.1:p.Tyr14392=
NM_003319.4:c.20904T>C (TTN) NP_003310.4:p.Tyr6968=
NM_133378.4:c.40395T>C (TTN) NP_596869.4:p.Tyr13465=
NM_133432.3:c.21279T>C (TTN) NP_597676.3:p.Tyr7093=
NM_133437.4:c.21480T>C (TTN) NP_597681.4:p.Tyr7160=
NR_038271.1:n.1604+1416A>G (TTN-AS1)
ENST00000342175.10:c.21480T>C (TTN) ENSP00000340554.6:p.Tyr7160=
ENST00000342175.11:c.21480T>C (TTN) ENSP00000340554.6:p.Tyr7160=
ENST00000342992.10:c.40395T>C (TTN) ENSP00000343764.6:p.Tyr13465=
ENST00000342992.11:c.40395T>C (TTN) ENSP00000343764.6:p.Tyr13465=
ENST00000359218.10:c.21279T>C (TTN) ENSP00000352154.5:p.Tyr7093=
ENST00000359218.9:c.21279T>C (TTN) ENSP00000352154.5:p.Tyr7093=
ENST00000460472.6:c.20904T>C (TTN) ENSP00000434586.1:p.Tyr6968=
ENST00000591111.5:c.43176T>C (TTN) ENSP00000465570.1:p.Tyr14392=
ENST00000615779.4:c.43176T>C (TTN) ENSP00000483597.1:p.Tyr14392=
XM_011511729.1:c.47196T>C (TTN) XP_011510031.1:p.Tyr15732=
XM_011511730.1:c.21090T>C (TTN) XP_011510032.1:p.Tyr7030=
XM_011511731.1:c.20949T>C (TTN) XP_011510033.1:p.Tyr6983=
XM_017004819.1:c.46992T>C (TTN) XP_016860308.1:p.Tyr15664=
XM_017004820.1:c.42390T>C (TTN) XP_016860309.1:p.Tyr14130=
XM_017004821.1:c.42387T>C (TTN) XP_016860310.1:p.Tyr14129=
XM_017004822.1:c.39429T>C (TTN) XP_016860311.1:p.Tyr13143=
XM_017004823.1:c.21045T>C (TTN) XP_016860312.1:p.Tyr7015=
XM_024453094.1:c.42540T>C (TTN) XP_024308862.1:p.Tyr14180=
XM_024453095.1:c.42537T>C (TTN) XP_024308863.1:p.Tyr14179=
XM_024453096.1:c.41970T>C (TTN) XP_024308864.1:p.Tyr13990=
XM_024453097.1:c.39312T>C (TTN) XP_024308865.1:p.Tyr13104=
XM_024453098.1:c.39231T>C (TTN) XP_024308866.1:p.Tyr13077=
XM_024453099.1:c.20994T>C (TTN) XP_024308867.1:p.Tyr6998=
XM_024453100.1:c.10848T>C (TTN) XP_024308868.1:p.Tyr3616=