Canonical Allele Identifier: CA349411871

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532238T>C , CM000664.2:g.178532238T>C GRCh38
NC_000002.11:g.179396965T>C , CM000664.1:g.179396965T>C GRCh37
NC_000002.10:g.179105211T>C NCBI36
NG_011618.3:g.303565A>G , LRG_391:g.303565A>G
NG_051363.1:g.14412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96673A>G (TTN) ENSP00000343764.6:p.Met32225Val
ENST00000342175.11:c.77758A>G (TTN) ENSP00000340554.6:p.Met25920Val
ENST00000359218.10:c.77557A>G (TTN) ENSP00000352154.5:p.Met25853Val
ENST00000342175.10:c.77758A>G (TTN) ENSP00000340554.6:p.Met25920Val
ENST00000342992.10:c.96673A>G (TTN) ENSP00000343764.6:p.Met32225Val
ENST00000359218.9:c.77557A>G (TTN) ENSP00000352154.5:p.Met25853Val
ENST00000460472.6:c.77182A>G (TTN) ENSP00000434586.1:p.Met25728Val
ENST00000589042.5:c.104377A>G (TTN) MANE Select ENSP00000467141.1:p.Met34793Val
ENST00000591111.5:c.99454A>G (TTN) ENSP00000465570.1:p.Met33152Val
ENST00000615779.4:c.99454A>G (TTN) ENSP00000483597.1:p.Met33152Val
NM_001256850.1:c.99454A>G (TTN) NP_001243779.1:p.Met33152Val
NM_001267550.2:c.104377A>G (TTN) MANE Select NP_001254479.2:p.Met34793Val
NM_003319.4:c.77182A>G (TTN) NP_003310.4:p.Met25728Val
NM_133378.4:c.96673A>G (TTN) NP_596869.4:p.Met32225Val
NM_133432.3:c.77557A>G (TTN) NP_597676.3:p.Met25853Val
NM_133437.4:c.77758A>G (TTN) NP_597681.4:p.Met25920Val
NR_038271.1:n.446+8602T>C (TTN-AS1)
NR_038272.1:n.220-3494T>C (TTN-AS1)
XM_011511729.1:c.103474A>G (TTN) XP_011510031.1:p.Met34492Val
XM_011511730.1:c.77368A>G (TTN) XP_011510032.1:p.Met25790Val
XM_011511731.1:c.77227A>G (TTN) XP_011510033.1:p.Met25743Val
XM_017004819.1:c.103270A>G (TTN) XP_016860308.1:p.Met34424Val
XM_017004820.1:c.98668A>G (TTN) XP_016860309.1:p.Met32890Val
XM_017004821.1:c.98665A>G (TTN) XP_016860310.1:p.Met32889Val
XM_017004822.1:c.95707A>G (TTN) XP_016860311.1:p.Met31903Val
XM_017004823.1:c.77323A>G (TTN) XP_016860312.1:p.Met25775Val
XM_024453094.1:c.98818A>G (TTN) XP_024308862.1:p.Met32940Val
XM_024453095.1:c.98815A>G (TTN) XP_024308863.1:p.Met32939Val
XM_024453096.1:c.98248A>G (TTN) XP_024308864.1:p.Met32750Val
XM_024453097.1:c.95590A>G (TTN) XP_024308865.1:p.Met31864Val
XM_024453098.1:c.95509A>G (TTN) XP_024308866.1:p.Met31837Val
XM_024453099.1:c.77272A>G (TTN) XP_024308867.1:p.Met25758Val
XM_024453100.1:c.67126A>G (TTN) XP_024308868.1:p.Met22376Val