Canonical Allele Identifier: CA1985684
Community Standard Title: NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533689A>G , CM000664.2:g.178533689A>G GRCh38
NC_000002.11:g.179398416A>G , CM000664.1:g.179398416A>G GRCh37
NC_000002.10:g.179106662A>G NCBI36
NG_011618.3:g.302114T>C , LRG_391:g.302114T>C
NG_051363.1:g.15863A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102926T>C (TTN) MANE Select NP_001254479.2:p.Phe34309Ser
ENST00000589042.5:c.102926T>C (TTN) MANE Select ENSP00000467141.1:p.Phe34309Ser
NM_001256850.1:c.98003T>C (TTN) NP_001243779.1:p.Phe32668Ser
NM_003319.4:c.75731T>C (TTN) NP_003310.4:p.Phe25244Ser
NM_133378.4:c.95222T>C (TTN) NP_596869.4:p.Phe31741Ser
NM_133432.3:c.76106T>C (TTN) NP_597676.3:p.Phe25369Ser
NM_133437.4:c.76307T>C (TTN) NP_597681.4:p.Phe25436Ser
NR_038271.1:n.446+10053A>G (TTN-AS1)
NR_038272.1:n.220-2043A>G (TTN-AS1)
ENST00000342175.10:c.76307T>C (TTN) ENSP00000340554.6:p.Phe25436Ser
ENST00000342175.11:c.76307T>C (TTN) ENSP00000340554.6:p.Phe25436Ser
ENST00000342992.10:c.95222T>C (TTN) ENSP00000343764.6:p.Phe31741Ser
ENST00000342992.11:c.95222T>C (TTN) ENSP00000343764.6:p.Phe31741Ser
ENST00000359218.10:c.76106T>C (TTN) ENSP00000352154.5:p.Phe25369Ser
ENST00000359218.9:c.76106T>C (TTN) ENSP00000352154.5:p.Phe25369Ser
ENST00000460472.6:c.75731T>C (TTN) ENSP00000434586.1:p.Phe25244Ser
ENST00000591111.5:c.98003T>C (TTN) ENSP00000465570.1:p.Phe32668Ser
ENST00000615779.4:c.98003T>C (TTN) ENSP00000483597.1:p.Phe32668Ser
XM_011511729.1:c.102023T>C (TTN) XP_011510031.1:p.Phe34008Ser
XM_011511730.1:c.75917T>C (TTN) XP_011510032.1:p.Phe25306Ser
XM_011511731.1:c.75776T>C (TTN) XP_011510033.1:p.Phe25259Ser
XM_017004819.1:c.101819T>C (TTN) XP_016860308.1:p.Phe33940Ser
XM_017004820.1:c.97217T>C (TTN) XP_016860309.1:p.Phe32406Ser
XM_017004821.1:c.97214T>C (TTN) XP_016860310.1:p.Phe32405Ser
XM_017004822.1:c.94256T>C (TTN) XP_016860311.1:p.Phe31419Ser
XM_017004823.1:c.75872T>C (TTN) XP_016860312.1:p.Phe25291Ser
XM_024453094.1:c.97367T>C (TTN) XP_024308862.1:p.Phe32456Ser
XM_024453095.1:c.97364T>C (TTN) XP_024308863.1:p.Phe32455Ser
XM_024453096.1:c.96797T>C (TTN) XP_024308864.1:p.Phe32266Ser
XM_024453097.1:c.94139T>C (TTN) XP_024308865.1:p.Phe31380Ser
XM_024453098.1:c.94058T>C (TTN) XP_024308866.1:p.Phe31353Ser
XM_024453099.1:c.75821T>C (TTN) XP_024308867.1:p.Phe25274Ser
XM_024453100.1:c.65675T>C (TTN) XP_024308868.1:p.Phe21892Ser