Canonical Allele Identifier: CA1994849
Community Standard Title: NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615771A>G , CM000664.2:g.178615771A>G GRCh38
NC_000002.11:g.179480498A>G , CM000664.1:g.179480498A>G GRCh37
NC_000002.10:g.179188743A>G NCBI36
NG_011618.3:g.220032T>C , LRG_391:g.220032T>C
NG_051363.1:g.97945A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48330T>C (TTN) MANE Select NP_001254479.2:p.Thr16110=
ENST00000589042.5:c.48330T>C (TTN) MANE Select ENSP00000467141.1:p.Thr16110=
NM_001256850.1:c.43407T>C (TTN) NP_001243779.1:p.Thr14469=
NM_003319.4:c.21135T>C (TTN) NP_003310.4:p.Thr7045=
NM_133378.4:c.40626T>C (TTN) NP_596869.4:p.Thr13542=
NM_133432.3:c.21510T>C (TTN) NP_597676.3:p.Thr7170=
NM_133437.4:c.21711T>C (TTN) NP_597681.4:p.Thr7237=
NR_038271.1:n.1604+397A>G (TTN-AS1)
ENST00000342175.10:c.21711T>C (TTN) ENSP00000340554.6:p.Thr7237=
ENST00000342175.11:c.21711T>C (TTN) ENSP00000340554.6:p.Thr7237=
ENST00000342992.10:c.40626T>C (TTN) ENSP00000343764.6:p.Thr13542=
ENST00000342992.11:c.40626T>C (TTN) ENSP00000343764.6:p.Thr13542=
ENST00000359218.10:c.21510T>C (TTN) ENSP00000352154.5:p.Thr7170=
ENST00000359218.9:c.21510T>C (TTN) ENSP00000352154.5:p.Thr7170=
ENST00000460472.6:c.21135T>C (TTN) ENSP00000434586.1:p.Thr7045=
ENST00000591111.5:c.43407T>C (TTN) ENSP00000465570.1:p.Thr14469=
ENST00000615779.4:c.43407T>C (TTN) ENSP00000483597.1:p.Thr14469=
XM_011511729.1:c.47427T>C (TTN) XP_011510031.1:p.Thr15809=
XM_011511730.1:c.21321T>C (TTN) XP_011510032.1:p.Thr7107=
XM_011511731.1:c.21180T>C (TTN) XP_011510033.1:p.Thr7060=
XM_017004819.1:c.47223T>C (TTN) XP_016860308.1:p.Thr15741=
XM_017004820.1:c.42621T>C (TTN) XP_016860309.1:p.Thr14207=
XM_017004821.1:c.42618T>C (TTN) XP_016860310.1:p.Thr14206=
XM_017004822.1:c.39660T>C (TTN) XP_016860311.1:p.Thr13220=
XM_017004823.1:c.21276T>C (TTN) XP_016860312.1:p.Thr7092=
XM_024453094.1:c.42771T>C (TTN) XP_024308862.1:p.Thr14257=
XM_024453095.1:c.42768T>C (TTN) XP_024308863.1:p.Thr14256=
XM_024453096.1:c.42201T>C (TTN) XP_024308864.1:p.Thr14067=
XM_024453097.1:c.39543T>C (TTN) XP_024308865.1:p.Thr13181=
XM_024453098.1:c.39462T>C (TTN) XP_024308866.1:p.Thr13154=
XM_024453099.1:c.21225T>C (TTN) XP_024308867.1:p.Thr7075=
XM_024453100.1:c.11079T>C (TTN) XP_024308868.1:p.Thr3693=