Canonical Allele Identifier: CA349407192

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530588C>G , CM000664.2:g.178530588C>G GRCh38
NC_000002.11:g.179395315C>G , CM000664.1:g.179395315C>G GRCh37
NC_000002.10:g.179103561C>G NCBI36
NG_011618.3:g.305215G>C , LRG_391:g.305215G>C
NG_051363.1:g.12762C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98323G>C (TTN) ENSP00000343764.6:p.Glu32775Gln
ENST00000342175.11:c.79408G>C (TTN) ENSP00000340554.6:p.Glu26470Gln
ENST00000359218.10:c.79207G>C (TTN) ENSP00000352154.5:p.Glu26403Gln
ENST00000342175.10:c.79408G>C (TTN) ENSP00000340554.6:p.Glu26470Gln
ENST00000342992.10:c.98323G>C (TTN) ENSP00000343764.6:p.Glu32775Gln
ENST00000359218.9:c.79207G>C (TTN) ENSP00000352154.5:p.Glu26403Gln
ENST00000460472.6:c.78832G>C (TTN) ENSP00000434586.1:p.Glu26278Gln
ENST00000589042.5:c.106027G>C (TTN) MANE Select ENSP00000467141.1:p.Glu35343Gln
ENST00000591111.5:c.101104G>C (TTN) ENSP00000465570.1:p.Glu33702Gln
ENST00000615779.4:c.101104G>C (TTN) ENSP00000483597.1:p.Glu33702Gln
NM_001256850.1:c.101104G>C (TTN) NP_001243779.1:p.Glu33702Gln
NM_001267550.2:c.106027G>C (TTN) MANE Select NP_001254479.2:p.Glu35343Gln
NM_003319.4:c.78832G>C (TTN) NP_003310.4:p.Glu26278Gln
NM_133378.4:c.98323G>C (TTN) NP_596869.4:p.Glu32775Gln
NM_133432.3:c.79207G>C (TTN) NP_597676.3:p.Glu26403Gln
NM_133437.4:c.79408G>C (TTN) NP_597681.4:p.Glu26470Gln
NR_038271.1:n.446+6952C>G (TTN-AS1)
NR_038272.1:n.220-5144C>G (TTN-AS1)
XM_011511729.1:c.105124G>C (TTN) XP_011510031.1:p.Glu35042Gln
XM_011511730.1:c.79018G>C (TTN) XP_011510032.1:p.Glu26340Gln
XM_011511731.1:c.78877G>C (TTN) XP_011510033.1:p.Glu26293Gln
XM_017004819.1:c.104920G>C (TTN) XP_016860308.1:p.Glu34974Gln
XM_017004820.1:c.100318G>C (TTN) XP_016860309.1:p.Glu33440Gln
XM_017004821.1:c.100315G>C (TTN) XP_016860310.1:p.Glu33439Gln
XM_017004822.1:c.97357G>C (TTN) XP_016860311.1:p.Glu32453Gln
XM_017004823.1:c.78973G>C (TTN) XP_016860312.1:p.Glu26325Gln
XM_024453094.1:c.100468G>C (TTN) XP_024308862.1:p.Glu33490Gln
XM_024453095.1:c.100465G>C (TTN) XP_024308863.1:p.Glu33489Gln
XM_024453096.1:c.99898G>C (TTN) XP_024308864.1:p.Glu33300Gln
XM_024453097.1:c.97240G>C (TTN) XP_024308865.1:p.Glu32414Gln
XM_024453098.1:c.97159G>C (TTN) XP_024308866.1:p.Glu32387Gln
XM_024453099.1:c.78922G>C (TTN) XP_024308867.1:p.Glu26308Gln
XM_024453100.1:c.68776G>C (TTN) XP_024308868.1:p.Glu22926Gln