Canonical Allele Identifier: CA349436124

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584688C>G , CM000664.2:g.178584688C>G GRCh38
NC_000002.11:g.179449415C>G , CM000664.1:g.179449415C>G GRCh37
NC_000002.10:g.179157661C>G NCBI36
NG_011618.3:g.251115G>C , LRG_391:g.251115G>C
NG_051363.1:g.66862C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57249G>C (TTN) ENSP00000343764.6:p.Met19083Ile
ENST00000342175.11:c.38334G>C (TTN) ENSP00000340554.6:p.Met12778Ile
ENST00000359218.10:c.38133G>C (TTN) ENSP00000352154.5:p.Met12711Ile
ENST00000342175.10:c.38334G>C (TTN) ENSP00000340554.6:p.Met12778Ile
ENST00000342992.10:c.57249G>C (TTN) ENSP00000343764.6:p.Met19083Ile
ENST00000359218.9:c.38133G>C (TTN) ENSP00000352154.5:p.Met12711Ile
ENST00000460472.6:c.37758G>C (TTN) ENSP00000434586.1:p.Met12586Ile
ENST00000589042.5:c.64953G>C (TTN) MANE Select ENSP00000467141.1:p.Met21651Ile
ENST00000591111.5:c.60030G>C (TTN) ENSP00000465570.1:p.Met20010Ile
ENST00000615779.4:c.60030G>C (TTN) ENSP00000483597.1:p.Met20010Ile
NM_001256850.1:c.60030G>C (TTN) NP_001243779.1:p.Met20010Ile
NM_001267550.2:c.64953G>C (TTN) MANE Select NP_001254479.2:p.Met21651Ile
NM_003319.4:c.37758G>C (TTN) NP_003310.4:p.Met12586Ile
NM_133378.4:c.57249G>C (TTN) NP_596869.4:p.Met19083Ile
NM_133432.3:c.38133G>C (TTN) NP_597676.3:p.Met12711Ile
NM_133437.4:c.38334G>C (TTN) NP_597681.4:p.Met12778Ile
NR_038271.1:n.597-12908C>G (TTN-AS1)
NR_038272.1:n.2883C>G (TTN-AS1)
XM_011511729.1:c.64050G>C (TTN) XP_011510031.1:p.Met21350Ile
XM_011511730.1:c.37944G>C (TTN) XP_011510032.1:p.Met12648Ile
XM_011511731.1:c.37803G>C (TTN) XP_011510033.1:p.Met12601Ile
XM_017004819.1:c.63846G>C (TTN) XP_016860308.1:p.Met21282Ile
XM_017004820.1:c.59244G>C (TTN) XP_016860309.1:p.Met19748Ile
XM_017004821.1:c.59241G>C (TTN) XP_016860310.1:p.Met19747Ile
XM_017004822.1:c.56283G>C (TTN) XP_016860311.1:p.Met18761Ile
XM_017004823.1:c.37899G>C (TTN) XP_016860312.1:p.Met12633Ile
XM_024453094.1:c.59394G>C (TTN) XP_024308862.1:p.Met19798Ile
XM_024453095.1:c.59391G>C (TTN) XP_024308863.1:p.Met19797Ile
XM_024453096.1:c.58824G>C (TTN) XP_024308864.1:p.Met19608Ile
XM_024453097.1:c.56166G>C (TTN) XP_024308865.1:p.Met18722Ile
XM_024453098.1:c.56085G>C (TTN) XP_024308866.1:p.Met18695Ile
XM_024453099.1:c.37848G>C (TTN) XP_024308867.1:p.Met12616Ile
XM_024453100.1:c.27702G>C (TTN) XP_024308868.1:p.Met9234Ile