Canonical Allele Identifier: CA1985500
Community Standard Title: NM_001267550.2(TTN):c.104017A>G (p.Met34673Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532598T>C , CM000664.2:g.178532598T>C GRCh38
NC_000002.11:g.179397325T>C , CM000664.1:g.179397325T>C GRCh37
NC_000002.10:g.179105571T>C NCBI36
NG_011618.3:g.303205A>G , LRG_391:g.303205A>G
NG_051363.1:g.14772T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104017A>G (TTN) MANE Select NP_001254479.2:p.Met34673Val
ENST00000589042.5:c.104017A>G (TTN) MANE Select ENSP00000467141.1:p.Met34673Val
NM_001256850.1:c.99094A>G (TTN) NP_001243779.1:p.Met33032Val
NM_003319.4:c.76822A>G (TTN) NP_003310.4:p.Met25608Val
NM_133378.4:c.96313A>G (TTN) NP_596869.4:p.Met32105Val
NM_133432.3:c.77197A>G (TTN) NP_597676.3:p.Met25733Val
NM_133437.4:c.77398A>G (TTN) NP_597681.4:p.Met25800Val
NR_038271.1:n.446+8962T>C (TTN-AS1)
NR_038272.1:n.220-3134T>C (TTN-AS1)
ENST00000342175.10:c.77398A>G (TTN) ENSP00000340554.6:p.Met25800Val
ENST00000342175.11:c.77398A>G (TTN) ENSP00000340554.6:p.Met25800Val
ENST00000342992.10:c.96313A>G (TTN) ENSP00000343764.6:p.Met32105Val
ENST00000342992.11:c.96313A>G (TTN) ENSP00000343764.6:p.Met32105Val
ENST00000359218.10:c.77197A>G (TTN) ENSP00000352154.5:p.Met25733Val
ENST00000359218.9:c.77197A>G (TTN) ENSP00000352154.5:p.Met25733Val
ENST00000460472.6:c.76822A>G (TTN) ENSP00000434586.1:p.Met25608Val
ENST00000591111.5:c.99094A>G (TTN) ENSP00000465570.1:p.Met33032Val
ENST00000615779.4:c.99094A>G (TTN) ENSP00000483597.1:p.Met33032Val
XM_011511729.1:c.103114A>G (TTN) XP_011510031.1:p.Met34372Val
XM_011511730.1:c.77008A>G (TTN) XP_011510032.1:p.Met25670Val
XM_011511731.1:c.76867A>G (TTN) XP_011510033.1:p.Met25623Val
XM_017004819.1:c.102910A>G (TTN) XP_016860308.1:p.Met34304Val
XM_017004820.1:c.98308A>G (TTN) XP_016860309.1:p.Met32770Val
XM_017004821.1:c.98305A>G (TTN) XP_016860310.1:p.Met32769Val
XM_017004822.1:c.95347A>G (TTN) XP_016860311.1:p.Met31783Val
XM_017004823.1:c.76963A>G (TTN) XP_016860312.1:p.Met25655Val
XM_024453094.1:c.98458A>G (TTN) XP_024308862.1:p.Met32820Val
XM_024453095.1:c.98455A>G (TTN) XP_024308863.1:p.Met32819Val
XM_024453096.1:c.97888A>G (TTN) XP_024308864.1:p.Met32630Val
XM_024453097.1:c.95230A>G (TTN) XP_024308865.1:p.Met31744Val
XM_024453098.1:c.95149A>G (TTN) XP_024308866.1:p.Met31717Val
XM_024453099.1:c.76912A>G (TTN) XP_024308867.1:p.Met25638Val
XM_024453100.1:c.66766A>G (TTN) XP_024308868.1:p.Met22256Val