Canonical Allele Identifier: CA349424476

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580183T>A , CM000664.2:g.178580183T>A GRCh38
NC_000002.11:g.179444910T>A , CM000664.1:g.179444910T>A GRCh37
NC_000002.10:g.179153156T>A NCBI36
NG_011618.3:g.255620A>T , LRG_391:g.255620A>T
NG_051363.1:g.62357T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59400A>T (TTN) ENSP00000343764.6:p.Lys19800Asn
ENST00000342175.11:c.40485A>T (TTN) ENSP00000340554.6:p.Lys13495Asn
ENST00000359218.10:c.40284A>T (TTN) ENSP00000352154.5:p.Lys13428Asn
ENST00000342175.10:c.40485A>T (TTN) ENSP00000340554.6:p.Lys13495Asn
ENST00000342992.10:c.59400A>T (TTN) ENSP00000343764.6:p.Lys19800Asn
ENST00000359218.9:c.40284A>T (TTN) ENSP00000352154.5:p.Lys13428Asn
ENST00000460472.6:c.39909A>T (TTN) ENSP00000434586.1:p.Lys13303Asn
ENST00000589042.5:c.67104A>T (TTN) MANE Select ENSP00000467141.1:p.Lys22368Asn
ENST00000591111.5:c.62181A>T (TTN) ENSP00000465570.1:p.Lys20727Asn
ENST00000615779.4:c.62181A>T (TTN) ENSP00000483597.1:p.Lys20727Asn
NM_001256850.1:c.62181A>T (TTN) NP_001243779.1:p.Lys20727Asn
NM_001267550.2:c.67104A>T (TTN) MANE Select NP_001254479.2:p.Lys22368Asn
NM_003319.4:c.39909A>T (TTN) NP_003310.4:p.Lys13303Asn
NM_133378.4:c.59400A>T (TTN) NP_596869.4:p.Lys19800Asn
NM_133432.3:c.40284A>T (TTN) NP_597676.3:p.Lys13428Asn
NM_133437.4:c.40485A>T (TTN) NP_597681.4:p.Lys13495Asn
NR_038271.1:n.596+8734T>A (TTN-AS1)
NR_038272.1:n.2044-2389T>A (TTN-AS1)
XM_011511729.1:c.66201A>T (TTN) XP_011510031.1:p.Lys22067Asn
XM_011511730.1:c.40095A>T (TTN) XP_011510032.1:p.Lys13365Asn
XM_011511731.1:c.39954A>T (TTN) XP_011510033.1:p.Lys13318Asn
XM_017004819.1:c.65997A>T (TTN) XP_016860308.1:p.Lys21999Asn
XM_017004820.1:c.61395A>T (TTN) XP_016860309.1:p.Lys20465Asn
XM_017004821.1:c.61392A>T (TTN) XP_016860310.1:p.Lys20464Asn
XM_017004822.1:c.58434A>T (TTN) XP_016860311.1:p.Lys19478Asn
XM_017004823.1:c.40050A>T (TTN) XP_016860312.1:p.Lys13350Asn
XM_024453094.1:c.61545A>T (TTN) XP_024308862.1:p.Lys20515Asn
XM_024453095.1:c.61542A>T (TTN) XP_024308863.1:p.Lys20514Asn
XM_024453096.1:c.60975A>T (TTN) XP_024308864.1:p.Lys20325Asn
XM_024453097.1:c.58317A>T (TTN) XP_024308865.1:p.Lys19439Asn
XM_024453098.1:c.58236A>T (TTN) XP_024308866.1:p.Lys19412Asn
XM_024453099.1:c.39999A>T (TTN) XP_024308867.1:p.Lys13333Asn
XM_024453100.1:c.29853A>T (TTN) XP_024308868.1:p.Lys9951Asn