Canonical Allele Identifier: CA430107853
Community Standard Title: NM_001267550.2(TTN):c.47715T>C (p.Asn15905=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617370A>G , CM000664.2:g.178617370A>G GRCh38
NC_000002.11:g.179482097A>G , CM000664.1:g.179482097A>G GRCh37
NC_000002.10:g.179190342A>G NCBI36
NG_011618.3:g.218433T>C , LRG_391:g.218433T>C
NG_051363.1:g.99544A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47715T>C (TTN) MANE Select NP_001254479.2:p.Asn15905=
ENST00000589042.5:c.47715T>C (TTN) MANE Select ENSP00000467141.1:p.Asn15905=
NM_001256850.1:c.42792T>C (TTN) NP_001243779.1:p.Asn14264=
NM_003319.4:c.20520T>C (TTN) NP_003310.4:p.Asn6840=
NM_133378.4:c.40011T>C (TTN) NP_596869.4:p.Asn13337=
NM_133432.3:c.20895T>C (TTN) NP_597676.3:p.Asn6965=
NM_133437.4:c.21096T>C (TTN) NP_597681.4:p.Asn7032=
NR_038271.1:n.1604+1996A>G (TTN-AS1)
ENST00000342175.10:c.21096T>C (TTN) ENSP00000340554.6:p.Asn7032=
ENST00000342175.11:c.21096T>C (TTN) ENSP00000340554.6:p.Asn7032=
ENST00000342992.10:c.40011T>C (TTN) ENSP00000343764.6:p.Asn13337=
ENST00000342992.11:c.40011T>C (TTN) ENSP00000343764.6:p.Asn13337=
ENST00000359218.10:c.20895T>C (TTN) ENSP00000352154.5:p.Asn6965=
ENST00000359218.9:c.20895T>C (TTN) ENSP00000352154.5:p.Asn6965=
ENST00000460472.6:c.20520T>C (TTN) ENSP00000434586.1:p.Asn6840=
ENST00000591111.5:c.42792T>C (TTN) ENSP00000465570.1:p.Asn14264=
ENST00000615779.4:c.42792T>C (TTN) ENSP00000483597.1:p.Asn14264=
XM_011511729.1:c.46812T>C (TTN) XP_011510031.1:p.Asn15604=
XM_011511730.1:c.20706T>C (TTN) XP_011510032.1:p.Asn6902=
XM_011511731.1:c.20565T>C (TTN) XP_011510033.1:p.Asn6855=
XM_017004819.1:c.46608T>C (TTN) XP_016860308.1:p.Asn15536=
XM_017004820.1:c.42006T>C (TTN) XP_016860309.1:p.Asn14002=
XM_017004821.1:c.42003T>C (TTN) XP_016860310.1:p.Asn14001=
XM_017004822.1:c.39045T>C (TTN) XP_016860311.1:p.Asn13015=
XM_017004823.1:c.20661T>C (TTN) XP_016860312.1:p.Asn6887=
XM_024453094.1:c.42156T>C (TTN) XP_024308862.1:p.Asn14052=
XM_024453095.1:c.42153T>C (TTN) XP_024308863.1:p.Asn14051=
XM_024453096.1:c.41586T>C (TTN) XP_024308864.1:p.Asn13862=
XM_024453097.1:c.38928T>C (TTN) XP_024308865.1:p.Asn12976=
XM_024453098.1:c.38847T>C (TTN) XP_024308866.1:p.Asn12949=
XM_024453099.1:c.20610T>C (TTN) XP_024308867.1:p.Asn6870=
XM_024453100.1:c.10464T>C (TTN) XP_024308868.1:p.Asn3488=