Canonical Allele Identifier: CA1992945
Community Standard Title: NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594486A>G , CM000664.2:g.178594486A>G GRCh38
NC_000002.11:g.179459213A>G , CM000664.1:g.179459213A>G GRCh37
NC_000002.10:g.179167459A>G NCBI36
NG_011618.3:g.241317T>C , LRG_391:g.241317T>C
NG_051363.1:g.76660A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.58008T>C (TTN) MANE Select NP_001254479.2:p.Asn19336=
ENST00000589042.5:c.58008T>C (TTN) MANE Select ENSP00000467141.1:p.Asn19336=
NM_001256850.1:c.53085T>C (TTN) NP_001243779.1:p.Asn17695=
NM_003319.4:c.30813T>C (TTN) NP_003310.4:p.Asn10271=
NM_133378.4:c.50304T>C (TTN) NP_596869.4:p.Asn16768=
NM_133432.3:c.31188T>C (TTN) NP_597676.3:p.Asn10396=
NM_133437.4:c.31389T>C (TTN) NP_597681.4:p.Asn10463=
NR_038271.1:n.597-3110A>G (TTN-AS1)
NR_038272.1:n.3365-3110A>G (TTN-AS1)
ENST00000342175.10:c.31389T>C (TTN) ENSP00000340554.6:p.Asn10463=
ENST00000342175.11:c.31389T>C (TTN) ENSP00000340554.6:p.Asn10463=
ENST00000342992.10:c.50304T>C (TTN) ENSP00000343764.6:p.Asn16768=
ENST00000342992.11:c.50304T>C (TTN) ENSP00000343764.6:p.Asn16768=
ENST00000359218.10:c.31188T>C (TTN) ENSP00000352154.5:p.Asn10396=
ENST00000359218.9:c.31188T>C (TTN) ENSP00000352154.5:p.Asn10396=
ENST00000460472.6:c.30813T>C (TTN) ENSP00000434586.1:p.Asn10271=
ENST00000591111.5:c.53085T>C (TTN) ENSP00000465570.1:p.Asn17695=
ENST00000615779.4:c.53085T>C (TTN) ENSP00000483597.1:p.Asn17695=
XM_011511729.1:c.57105T>C (TTN) XP_011510031.1:p.Asn19035=
XM_011511730.1:c.30999T>C (TTN) XP_011510032.1:p.Asn10333=
XM_011511731.1:c.30858T>C (TTN) XP_011510033.1:p.Asn10286=
XM_017004819.1:c.56901T>C (TTN) XP_016860308.1:p.Asn18967=
XM_017004820.1:c.52299T>C (TTN) XP_016860309.1:p.Asn17433=
XM_017004821.1:c.52296T>C (TTN) XP_016860310.1:p.Asn17432=
XM_017004822.1:c.49338T>C (TTN) XP_016860311.1:p.Asn16446=
XM_017004823.1:c.30954T>C (TTN) XP_016860312.1:p.Asn10318=
XM_024453094.1:c.52449T>C (TTN) XP_024308862.1:p.Asn17483=
XM_024453095.1:c.52446T>C (TTN) XP_024308863.1:p.Asn17482=
XM_024453096.1:c.51879T>C (TTN) XP_024308864.1:p.Asn17293=
XM_024453097.1:c.49221T>C (TTN) XP_024308865.1:p.Asn16407=
XM_024453098.1:c.49140T>C (TTN) XP_024308866.1:p.Asn16380=
XM_024453099.1:c.30903T>C (TTN) XP_024308867.1:p.Asn10301=
XM_024453100.1:c.20757T>C (TTN) XP_024308868.1:p.Asn6919=