Canonical Allele Identifier: CA430272532
Community Standard Title: NM_001267550.2(TTN):c.50226T>C (p.Ser16742=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612299A>G , CM000664.2:g.178612299A>G GRCh38
NC_000002.11:g.179477026A>G , CM000664.1:g.179477026A>G GRCh37
NC_000002.10:g.179185271A>G NCBI36
NG_011618.3:g.223504T>C , LRG_391:g.223504T>C
NG_051363.1:g.94473A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50226T>C (TTN) MANE Select NP_001254479.2:p.Ser16742=
ENST00000589042.5:c.50226T>C (TTN) MANE Select ENSP00000467141.1:p.Ser16742=
NM_001256850.1:c.45303T>C (TTN) NP_001243779.1:p.Ser15101=
NM_003319.4:c.23031T>C (TTN) NP_003310.4:p.Ser7677=
NM_133378.4:c.42522T>C (TTN) NP_596869.4:p.Ser14174=
NM_133432.3:c.23406T>C (TTN) NP_597676.3:p.Ser7802=
NM_133437.4:c.23607T>C (TTN) NP_597681.4:p.Ser7869=
NR_038271.1:n.783-1736A>G (TTN-AS1)
ENST00000342175.10:c.23607T>C (TTN) ENSP00000340554.6:p.Ser7869=
ENST00000342175.11:c.23607T>C (TTN) ENSP00000340554.6:p.Ser7869=
ENST00000342992.10:c.42522T>C (TTN) ENSP00000343764.6:p.Ser14174=
ENST00000342992.11:c.42522T>C (TTN) ENSP00000343764.6:p.Ser14174=
ENST00000359218.10:c.23406T>C (TTN) ENSP00000352154.5:p.Ser7802=
ENST00000359218.9:c.23406T>C (TTN) ENSP00000352154.5:p.Ser7802=
ENST00000460472.6:c.23031T>C (TTN) ENSP00000434586.1:p.Ser7677=
ENST00000591111.5:c.45303T>C (TTN) ENSP00000465570.1:p.Ser15101=
ENST00000615779.4:c.45303T>C (TTN) ENSP00000483597.1:p.Ser15101=
XM_011511729.1:c.49323T>C (TTN) XP_011510031.1:p.Ser16441=
XM_011511730.1:c.23217T>C (TTN) XP_011510032.1:p.Ser7739=
XM_011511731.1:c.23076T>C (TTN) XP_011510033.1:p.Ser7692=
XM_017004819.1:c.49119T>C (TTN) XP_016860308.1:p.Ser16373=
XM_017004820.1:c.44517T>C (TTN) XP_016860309.1:p.Ser14839=
XM_017004821.1:c.44514T>C (TTN) XP_016860310.1:p.Ser14838=
XM_017004822.1:c.41556T>C (TTN) XP_016860311.1:p.Ser13852=
XM_017004823.1:c.23172T>C (TTN) XP_016860312.1:p.Ser7724=
XM_024453094.1:c.44667T>C (TTN) XP_024308862.1:p.Ser14889=
XM_024453095.1:c.44664T>C (TTN) XP_024308863.1:p.Ser14888=
XM_024453096.1:c.44097T>C (TTN) XP_024308864.1:p.Ser14699=
XM_024453097.1:c.41439T>C (TTN) XP_024308865.1:p.Ser13813=
XM_024453098.1:c.41358T>C (TTN) XP_024308866.1:p.Ser13786=
XM_024453099.1:c.23121T>C (TTN) XP_024308867.1:p.Ser7707=
XM_024453100.1:c.12975T>C (TTN) XP_024308868.1:p.Ser4325=