Canonical Allele Identifier: CA349577455
Community Standard Title: NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609233T>A , CM000664.2:g.178609233T>A GRCh38
NC_000002.11:g.179473960T>A , CM000664.1:g.179473960T>A GRCh37
NC_000002.10:g.179182205T>A NCBI36
NG_011618.3:g.226570A>T , LRG_391:g.226570A>T
NG_051363.1:g.91407T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52077A>T (TTN) MANE Select NP_001254479.2:p.Lys17359Asn
ENST00000589042.5:c.52077A>T (TTN) MANE Select ENSP00000467141.1:p.Lys17359Asn
NM_001256850.1:c.47154A>T (TTN) NP_001243779.1:p.Lys15718Asn
NM_003319.4:c.24882A>T (TTN) NP_003310.4:p.Lys8294Asn
NM_133378.4:c.44373A>T (TTN) NP_596869.4:p.Lys14791Asn
NM_133432.3:c.25257A>T (TTN) NP_597676.3:p.Lys8419Asn
NM_133437.4:c.25458A>T (TTN) NP_597681.4:p.Lys8486Asn
NR_038271.1:n.782+967T>A (TTN-AS1)
ENST00000342175.10:c.25458A>T (TTN) ENSP00000340554.6:p.Lys8486Asn
ENST00000342175.11:c.25458A>T (TTN) ENSP00000340554.6:p.Lys8486Asn
ENST00000342992.10:c.44373A>T (TTN) ENSP00000343764.6:p.Lys14791Asn
ENST00000342992.11:c.44373A>T (TTN) ENSP00000343764.6:p.Lys14791Asn
ENST00000359218.10:c.25257A>T (TTN) ENSP00000352154.5:p.Lys8419Asn
ENST00000359218.9:c.25257A>T (TTN) ENSP00000352154.5:p.Lys8419Asn
ENST00000460472.6:c.24882A>T (TTN) ENSP00000434586.1:p.Lys8294Asn
ENST00000591111.5:c.47154A>T (TTN) ENSP00000465570.1:p.Lys15718Asn
ENST00000615779.4:c.47154A>T (TTN) ENSP00000483597.1:p.Lys15718Asn
XM_011511729.1:c.51174A>T (TTN) XP_011510031.1:p.Lys17058Asn
XM_011511730.1:c.25068A>T (TTN) XP_011510032.1:p.Lys8356Asn
XM_011511731.1:c.24927A>T (TTN) XP_011510033.1:p.Lys8309Asn
XM_017004819.1:c.50970A>T (TTN) XP_016860308.1:p.Lys16990Asn
XM_017004820.1:c.46368A>T (TTN) XP_016860309.1:p.Lys15456Asn
XM_017004821.1:c.46365A>T (TTN) XP_016860310.1:p.Lys15455Asn
XM_017004822.1:c.43407A>T (TTN) XP_016860311.1:p.Lys14469Asn
XM_017004823.1:c.25023A>T (TTN) XP_016860312.1:p.Lys8341Asn
XM_024453094.1:c.46518A>T (TTN) XP_024308862.1:p.Lys15506Asn
XM_024453095.1:c.46515A>T (TTN) XP_024308863.1:p.Lys15505Asn
XM_024453096.1:c.45948A>T (TTN) XP_024308864.1:p.Lys15316Asn
XM_024453097.1:c.43290A>T (TTN) XP_024308865.1:p.Lys14430Asn
XM_024453098.1:c.43209A>T (TTN) XP_024308866.1:p.Lys14403Asn
XM_024453099.1:c.24972A>T (TTN) XP_024308867.1:p.Lys8324Asn
XM_024453100.1:c.14826A>T (TTN) XP_024308868.1:p.Lys4942Asn