Canonical Allele Identifier: CA349480183

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591027A>C , CM000664.2:g.178591027A>C GRCh38
NC_000002.11:g.179455754A>C , CM000664.1:g.179455754A>C GRCh37
NC_000002.10:g.179164000A>C NCBI36
NG_011618.3:g.244776T>G , LRG_391:g.244776T>G
NG_051363.1:g.73201A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52994T>G (TTN) ENSP00000343764.6:p.Ile17665Ser
ENST00000342175.11:c.34079T>G (TTN) ENSP00000340554.6:p.Ile11360Ser
ENST00000359218.10:c.33878T>G (TTN) ENSP00000352154.5:p.Ile11293Ser
ENST00000342175.10:c.34079T>G (TTN) ENSP00000340554.6:p.Ile11360Ser
ENST00000342992.10:c.52994T>G (TTN) ENSP00000343764.6:p.Ile17665Ser
ENST00000359218.9:c.33878T>G (TTN) ENSP00000352154.5:p.Ile11293Ser
ENST00000460472.6:c.33503T>G (TTN) ENSP00000434586.1:p.Ile11168Ser
ENST00000589042.5:c.60698T>G (TTN) MANE Select ENSP00000467141.1:p.Ile20233Ser
ENST00000591111.5:c.55775T>G (TTN) ENSP00000465570.1:p.Ile18592Ser
ENST00000615779.4:c.55775T>G (TTN) ENSP00000483597.1:p.Ile18592Ser
NM_001256850.1:c.55775T>G (TTN) NP_001243779.1:p.Ile18592Ser
NM_001267550.2:c.60698T>G (TTN) MANE Select NP_001254479.2:p.Ile20233Ser
NM_003319.4:c.33503T>G (TTN) NP_003310.4:p.Ile11168Ser
NM_133378.4:c.52994T>G (TTN) NP_596869.4:p.Ile17665Ser
NM_133432.3:c.33878T>G (TTN) NP_597676.3:p.Ile11293Ser
NM_133437.4:c.34079T>G (TTN) NP_597681.4:p.Ile11360Ser
NR_038271.1:n.597-6569A>C (TTN-AS1)
NR_038272.1:n.3189-112A>C (TTN-AS1)
XM_011511729.1:c.59795T>G (TTN) XP_011510031.1:p.Ile19932Ser
XM_011511730.1:c.33689T>G (TTN) XP_011510032.1:p.Ile11230Ser
XM_011511731.1:c.33548T>G (TTN) XP_011510033.1:p.Ile11183Ser
XM_017004819.1:c.59591T>G (TTN) XP_016860308.1:p.Ile19864Ser
XM_017004820.1:c.54989T>G (TTN) XP_016860309.1:p.Ile18330Ser
XM_017004821.1:c.54986T>G (TTN) XP_016860310.1:p.Ile18329Ser
XM_017004822.1:c.52028T>G (TTN) XP_016860311.1:p.Ile17343Ser
XM_017004823.1:c.33644T>G (TTN) XP_016860312.1:p.Ile11215Ser
XM_024453094.1:c.55139T>G (TTN) XP_024308862.1:p.Ile18380Ser
XM_024453095.1:c.55136T>G (TTN) XP_024308863.1:p.Ile18379Ser
XM_024453096.1:c.54569T>G (TTN) XP_024308864.1:p.Ile18190Ser
XM_024453097.1:c.51911T>G (TTN) XP_024308865.1:p.Ile17304Ser
XM_024453098.1:c.51830T>G (TTN) XP_024308866.1:p.Ile17277Ser
XM_024453099.1:c.33593T>G (TTN) XP_024308867.1:p.Ile11198Ser
XM_024453100.1:c.23447T>G (TTN) XP_024308868.1:p.Ile7816Ser