Canonical Allele Identifier: CA349544852

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559832T>C , CM000664.2:g.178559832T>C GRCh38
NC_000002.11:g.179424559T>C , CM000664.1:g.179424559T>C GRCh37
NC_000002.10:g.179132805T>C NCBI36
NG_011618.3:g.275971A>G , LRG_391:g.275971A>G
NG_051363.1:g.42006T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78596A>G (TTN) ENSP00000343764.6:p.Lys26199Arg
ENST00000342175.11:c.59681A>G (TTN) ENSP00000340554.6:p.Lys19894Arg
ENST00000359218.10:c.59480A>G (TTN) ENSP00000352154.5:p.Lys19827Arg
ENST00000342175.10:c.59681A>G (TTN) ENSP00000340554.6:p.Lys19894Arg
ENST00000342992.10:c.78596A>G (TTN) ENSP00000343764.6:p.Lys26199Arg
ENST00000359218.9:c.59480A>G (TTN) ENSP00000352154.5:p.Lys19827Arg
ENST00000460472.6:c.59105A>G (TTN) ENSP00000434586.1:p.Lys19702Arg
ENST00000589042.5:c.86300A>G (TTN) MANE Select ENSP00000467141.1:p.Lys28767Arg
ENST00000591111.5:c.81377A>G (TTN) ENSP00000465570.1:p.Lys27126Arg
ENST00000615779.4:c.81377A>G (TTN) ENSP00000483597.1:p.Lys27126Arg
NM_001256850.1:c.81377A>G (TTN) NP_001243779.1:p.Lys27126Arg
NM_001267550.2:c.86300A>G (TTN) MANE Select NP_001254479.2:p.Lys28767Arg
NM_003319.4:c.59105A>G (TTN) NP_003310.4:p.Lys19702Arg
NM_133378.4:c.78596A>G (TTN) NP_596869.4:p.Lys26199Arg
NM_133432.3:c.59480A>G (TTN) NP_597676.3:p.Lys19827Arg
NM_133437.4:c.59681A>G (TTN) NP_597681.4:p.Lys19894Arg
NR_038271.1:n.447-11468T>C (TTN-AS1)
NR_038272.1:n.2043+17471T>C (TTN-AS1)
XM_011511729.1:c.85397A>G (TTN) XP_011510031.1:p.Lys28466Arg
XM_011511730.1:c.59291A>G (TTN) XP_011510032.1:p.Lys19764Arg
XM_011511731.1:c.59150A>G (TTN) XP_011510033.1:p.Lys19717Arg
XM_017004819.1:c.85193A>G (TTN) XP_016860308.1:p.Lys28398Arg
XM_017004820.1:c.80591A>G (TTN) XP_016860309.1:p.Lys26864Arg
XM_017004821.1:c.80588A>G (TTN) XP_016860310.1:p.Lys26863Arg
XM_017004822.1:c.77630A>G (TTN) XP_016860311.1:p.Lys25877Arg
XM_017004823.1:c.59246A>G (TTN) XP_016860312.1:p.Lys19749Arg
XM_024453094.1:c.80741A>G (TTN) XP_024308862.1:p.Lys26914Arg
XM_024453095.1:c.80738A>G (TTN) XP_024308863.1:p.Lys26913Arg
XM_024453096.1:c.80171A>G (TTN) XP_024308864.1:p.Lys26724Arg
XM_024453097.1:c.77513A>G (TTN) XP_024308865.1:p.Lys25838Arg
XM_024453098.1:c.77432A>G (TTN) XP_024308866.1:p.Lys25811Arg
XM_024453099.1:c.59195A>G (TTN) XP_024308867.1:p.Lys19732Arg
XM_024453100.1:c.49049A>G (TTN) XP_024308868.1:p.Lys16350Arg