Canonical Allele Identifier: CA60990661

Linked Data

dbSNP Id: rs1016054525

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618193T>C , CM000664.2:g.178618193T>C GRCh38
NC_000002.11:g.179482920T>C , CM000664.1:g.179482920T>C GRCh37
NC_000002.10:g.179191165T>C NCBI36
NG_011618.3:g.217610A>G , LRG_391:g.217610A>G
NG_051363.1:g.100367T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39561A>G (TTN) ENSP00000343764.6:p.Lys13187=
ENST00000342175.11:c.20646A>G (TTN) ENSP00000340554.6:p.Lys6882=
ENST00000359218.10:c.20445A>G (TTN) ENSP00000352154.5:p.Lys6815=
ENST00000342175.10:c.20646A>G (TTN) ENSP00000340554.6:p.Lys6882=
ENST00000342992.10:c.39561A>G (TTN) ENSP00000343764.6:p.Lys13187=
ENST00000359218.9:c.20445A>G (TTN) ENSP00000352154.5:p.Lys6815=
ENST00000460472.6:c.20070A>G (TTN) ENSP00000434586.1:p.Lys6690=
ENST00000589042.5:c.47265A>G (TTN) MANE Select ENSP00000467141.1:p.Lys15755=
ENST00000591111.5:c.42342A>G (TTN) ENSP00000465570.1:p.Lys14114=
ENST00000615779.4:c.42342A>G (TTN) ENSP00000483597.1:p.Lys14114=
NM_001256850.1:c.42342A>G (TTN) NP_001243779.1:p.Lys14114=
NM_001267550.2:c.47265A>G (TTN) MANE Select NP_001254479.2:p.Lys15755=
NM_003319.4:c.20070A>G (TTN) NP_003310.4:p.Lys6690=
NM_133378.4:c.39561A>G (TTN) NP_596869.4:p.Lys13187=
NM_133432.3:c.20445A>G (TTN) NP_597676.3:p.Lys6815=
NM_133437.4:c.20646A>G (TTN) NP_597681.4:p.Lys6882=
NR_038271.1:n.1605-1560T>C (TTN-AS1)
XM_011511729.1:c.46362A>G (TTN) XP_011510031.1:p.Lys15454=
XM_011511730.1:c.20256A>G (TTN) XP_011510032.1:p.Lys6752=
XM_011511731.1:c.20115A>G (TTN) XP_011510033.1:p.Lys6705=
XM_017004819.1:c.46158A>G (TTN) XP_016860308.1:p.Lys15386=
XM_017004820.1:c.41556A>G (TTN) XP_016860309.1:p.Lys13852=
XM_017004821.1:c.41553A>G (TTN) XP_016860310.1:p.Lys13851=
XM_017004822.1:c.38595A>G (TTN) XP_016860311.1:p.Lys12865=
XM_017004823.1:c.20211A>G (TTN) XP_016860312.1:p.Lys6737=
XM_024453094.1:c.41706A>G (TTN) XP_024308862.1:p.Lys13902=
XM_024453095.1:c.41703A>G (TTN) XP_024308863.1:p.Lys13901=
XM_024453096.1:c.41136A>G (TTN) XP_024308864.1:p.Lys13712=
XM_024453097.1:c.38478A>G (TTN) XP_024308865.1:p.Lys12826=
XM_024453098.1:c.38397A>G (TTN) XP_024308866.1:p.Lys12799=
XM_024453099.1:c.20160A>G (TTN) XP_024308867.1:p.Lys6720=
XM_024453100.1:c.10014A>G (TTN) XP_024308868.1:p.Lys3338=