Canonical Allele Identifier: CA349407055

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530525C>G , CM000664.2:g.178530525C>G GRCh38
NC_000002.11:g.179395252C>G , CM000664.1:g.179395252C>G GRCh37
NC_000002.10:g.179103498C>G NCBI36
NG_011618.3:g.305278G>C , LRG_391:g.305278G>C
NG_051363.1:g.12699C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98386G>C (TTN) ENSP00000343764.6:p.Glu32796Gln
ENST00000342175.11:c.79471G>C (TTN) ENSP00000340554.6:p.Glu26491Gln
ENST00000359218.10:c.79270G>C (TTN) ENSP00000352154.5:p.Glu26424Gln
ENST00000342175.10:c.79471G>C (TTN) ENSP00000340554.6:p.Glu26491Gln
ENST00000342992.10:c.98386G>C (TTN) ENSP00000343764.6:p.Glu32796Gln
ENST00000359218.9:c.79270G>C (TTN) ENSP00000352154.5:p.Glu26424Gln
ENST00000460472.6:c.78895G>C (TTN) ENSP00000434586.1:p.Glu26299Gln
ENST00000589042.5:c.106090G>C (TTN) MANE Select ENSP00000467141.1:p.Glu35364Gln
ENST00000591111.5:c.101167G>C (TTN) ENSP00000465570.1:p.Glu33723Gln
ENST00000615779.4:c.101167G>C (TTN) ENSP00000483597.1:p.Glu33723Gln
NM_001256850.1:c.101167G>C (TTN) NP_001243779.1:p.Glu33723Gln
NM_001267550.2:c.106090G>C (TTN) MANE Select NP_001254479.2:p.Glu35364Gln
NM_003319.4:c.78895G>C (TTN) NP_003310.4:p.Glu26299Gln
NM_133378.4:c.98386G>C (TTN) NP_596869.4:p.Glu32796Gln
NM_133432.3:c.79270G>C (TTN) NP_597676.3:p.Glu26424Gln
NM_133437.4:c.79471G>C (TTN) NP_597681.4:p.Glu26491Gln
NR_038271.1:n.446+6889C>G (TTN-AS1)
NR_038272.1:n.220-5207C>G (TTN-AS1)
XM_011511729.1:c.105187G>C (TTN) XP_011510031.1:p.Glu35063Gln
XM_011511730.1:c.79081G>C (TTN) XP_011510032.1:p.Glu26361Gln
XM_011511731.1:c.78940G>C (TTN) XP_011510033.1:p.Glu26314Gln
XM_017004819.1:c.104983G>C (TTN) XP_016860308.1:p.Glu34995Gln
XM_017004820.1:c.100381G>C (TTN) XP_016860309.1:p.Glu33461Gln
XM_017004821.1:c.100378G>C (TTN) XP_016860310.1:p.Glu33460Gln
XM_017004822.1:c.97420G>C (TTN) XP_016860311.1:p.Glu32474Gln
XM_017004823.1:c.79036G>C (TTN) XP_016860312.1:p.Glu26346Gln
XM_024453094.1:c.100531G>C (TTN) XP_024308862.1:p.Glu33511Gln
XM_024453095.1:c.100528G>C (TTN) XP_024308863.1:p.Glu33510Gln
XM_024453096.1:c.99961G>C (TTN) XP_024308864.1:p.Glu33321Gln
XM_024453097.1:c.97303G>C (TTN) XP_024308865.1:p.Glu32435Gln
XM_024453098.1:c.97222G>C (TTN) XP_024308866.1:p.Glu32408Gln
XM_024453099.1:c.78985G>C (TTN) XP_024308867.1:p.Glu26329Gln
XM_024453100.1:c.68839G>C (TTN) XP_024308868.1:p.Glu22947Gln