Canonical Allele Identifier: CA1994828
Community Standard Title: NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615650T>C , CM000664.2:g.178615650T>C GRCh38
NC_000002.11:g.179480377T>C , CM000664.1:g.179480377T>C GRCh37
NC_000002.10:g.179188622T>C NCBI36
NG_011618.3:g.220153A>G , LRG_391:g.220153A>G
NG_051363.1:g.97824T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48451A>G (TTN) MANE Select NP_001254479.2:p.Thr16151Ala
ENST00000589042.5:c.48451A>G (TTN) MANE Select ENSP00000467141.1:p.Thr16151Ala
NM_001256850.1:c.43528A>G (TTN) NP_001243779.1:p.Thr14510Ala
NM_003319.4:c.21256A>G (TTN) NP_003310.4:p.Thr7086Ala
NM_133378.4:c.40747A>G (TTN) NP_596869.4:p.Thr13583Ala
NM_133432.3:c.21631A>G (TTN) NP_597676.3:p.Thr7211Ala
NM_133437.4:c.21832A>G (TTN) NP_597681.4:p.Thr7278Ala
NR_038271.1:n.1604+276T>C (TTN-AS1)
ENST00000342175.10:c.21832A>G (TTN) ENSP00000340554.6:p.Thr7278Ala
ENST00000342175.11:c.21832A>G (TTN) ENSP00000340554.6:p.Thr7278Ala
ENST00000342992.10:c.40747A>G (TTN) ENSP00000343764.6:p.Thr13583Ala
ENST00000342992.11:c.40747A>G (TTN) ENSP00000343764.6:p.Thr13583Ala
ENST00000359218.10:c.21631A>G (TTN) ENSP00000352154.5:p.Thr7211Ala
ENST00000359218.9:c.21631A>G (TTN) ENSP00000352154.5:p.Thr7211Ala
ENST00000460472.6:c.21256A>G (TTN) ENSP00000434586.1:p.Thr7086Ala
ENST00000591111.5:c.43528A>G (TTN) ENSP00000465570.1:p.Thr14510Ala
ENST00000615779.4:c.43528A>G (TTN) ENSP00000483597.1:p.Thr14510Ala
XM_011511729.1:c.47548A>G (TTN) XP_011510031.1:p.Thr15850Ala
XM_011511730.1:c.21442A>G (TTN) XP_011510032.1:p.Thr7148Ala
XM_011511731.1:c.21301A>G (TTN) XP_011510033.1:p.Thr7101Ala
XM_017004819.1:c.47344A>G (TTN) XP_016860308.1:p.Thr15782Ala
XM_017004820.1:c.42742A>G (TTN) XP_016860309.1:p.Thr14248Ala
XM_017004821.1:c.42739A>G (TTN) XP_016860310.1:p.Thr14247Ala
XM_017004822.1:c.39781A>G (TTN) XP_016860311.1:p.Thr13261Ala
XM_017004823.1:c.21397A>G (TTN) XP_016860312.1:p.Thr7133Ala
XM_024453094.1:c.42892A>G (TTN) XP_024308862.1:p.Thr14298Ala
XM_024453095.1:c.42889A>G (TTN) XP_024308863.1:p.Thr14297Ala
XM_024453096.1:c.42322A>G (TTN) XP_024308864.1:p.Thr14108Ala
XM_024453097.1:c.39664A>G (TTN) XP_024308865.1:p.Thr13222Ala
XM_024453098.1:c.39583A>G (TTN) XP_024308866.1:p.Thr13195Ala
XM_024453099.1:c.21346A>G (TTN) XP_024308867.1:p.Thr7116Ala
XM_024453100.1:c.11200A>G (TTN) XP_024308868.1:p.Thr3734Ala