Canonical Allele Identifier: CA349672138

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577990A>C , CM000664.2:g.178577990A>C GRCh38
NC_000002.11:g.179442717A>C , CM000664.1:g.179442717A>C GRCh37
NC_000002.10:g.179150963A>C NCBI36
NG_011618.3:g.257813T>G , LRG_391:g.257813T>G
NG_051363.1:g.60164A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60821T>G (TTN) ENSP00000343764.6:p.Ile20274Ser
ENST00000342175.11:c.41906T>G (TTN) ENSP00000340554.6:p.Ile13969Ser
ENST00000359218.10:c.41705T>G (TTN) ENSP00000352154.5:p.Ile13902Ser
ENST00000342175.10:c.41906T>G (TTN) ENSP00000340554.6:p.Ile13969Ser
ENST00000342992.10:c.60821T>G (TTN) ENSP00000343764.6:p.Ile20274Ser
ENST00000359218.9:c.41705T>G (TTN) ENSP00000352154.5:p.Ile13902Ser
ENST00000460472.6:c.41330T>G (TTN) ENSP00000434586.1:p.Ile13777Ser
ENST00000589042.5:c.68525T>G (TTN) MANE Select ENSP00000467141.1:p.Ile22842Ser
ENST00000591111.5:c.63602T>G (TTN) ENSP00000465570.1:p.Ile21201Ser
ENST00000615779.4:c.63602T>G (TTN) ENSP00000483597.1:p.Ile21201Ser
NM_001256850.1:c.63602T>G (TTN) NP_001243779.1:p.Ile21201Ser
NM_001267550.2:c.68525T>G (TTN) MANE Select NP_001254479.2:p.Ile22842Ser
NM_003319.4:c.41330T>G (TTN) NP_003310.4:p.Ile13777Ser
NM_133378.4:c.60821T>G (TTN) NP_596869.4:p.Ile20274Ser
NM_133432.3:c.41705T>G (TTN) NP_597676.3:p.Ile13902Ser
NM_133437.4:c.41906T>G (TTN) NP_597681.4:p.Ile13969Ser
NR_038271.1:n.596+6541A>C (TTN-AS1)
NR_038272.1:n.2044-4582A>C (TTN-AS1)
XM_011511729.1:c.67622T>G (TTN) XP_011510031.1:p.Ile22541Ser
XM_011511730.1:c.41516T>G (TTN) XP_011510032.1:p.Ile13839Ser
XM_011511731.1:c.41375T>G (TTN) XP_011510033.1:p.Ile13792Ser
XM_017004819.1:c.67418T>G (TTN) XP_016860308.1:p.Ile22473Ser
XM_017004820.1:c.62816T>G (TTN) XP_016860309.1:p.Ile20939Ser
XM_017004821.1:c.62813T>G (TTN) XP_016860310.1:p.Ile20938Ser
XM_017004822.1:c.59855T>G (TTN) XP_016860311.1:p.Ile19952Ser
XM_017004823.1:c.41471T>G (TTN) XP_016860312.1:p.Ile13824Ser
XM_024453094.1:c.62966T>G (TTN) XP_024308862.1:p.Ile20989Ser
XM_024453095.1:c.62963T>G (TTN) XP_024308863.1:p.Ile20988Ser
XM_024453096.1:c.62396T>G (TTN) XP_024308864.1:p.Ile20799Ser
XM_024453097.1:c.59738T>G (TTN) XP_024308865.1:p.Ile19913Ser
XM_024453098.1:c.59657T>G (TTN) XP_024308866.1:p.Ile19886Ser
XM_024453099.1:c.41420T>G (TTN) XP_024308867.1:p.Ile13807Ser
XM_024453100.1:c.31274T>G (TTN) XP_024308868.1:p.Ile10425Ser