Canonical Allele Identifier: CA1985200
Community Standard Title: NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530781C>G , CM000664.2:g.178530781C>G GRCh38
NC_000002.11:g.179395508C>G , CM000664.1:g.179395508C>G GRCh37
NC_000002.10:g.179103754C>G NCBI36
NG_011618.3:g.305022G>C , LRG_391:g.305022G>C
NG_051363.1:g.12955C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105834G>C (TTN) MANE Select NP_001254479.2:p.Gln35278His
ENST00000589042.5:c.105834G>C (TTN) MANE Select ENSP00000467141.1:p.Gln35278His
NM_001256850.1:c.100911G>C (TTN) NP_001243779.1:p.Gln33637His
NM_003319.4:c.78639G>C (TTN) NP_003310.4:p.Gln26213His
NM_133378.4:c.98130G>C (TTN) NP_596869.4:p.Gln32710His
NM_133432.3:c.79014G>C (TTN) NP_597676.3:p.Gln26338His
NM_133437.4:c.79215G>C (TTN) NP_597681.4:p.Gln26405His
NR_038271.1:n.446+7145C>G (TTN-AS1)
NR_038272.1:n.220-4951C>G (TTN-AS1)
ENST00000342175.10:c.79215G>C (TTN) ENSP00000340554.6:p.Gln26405His
ENST00000342175.11:c.79215G>C (TTN) ENSP00000340554.6:p.Gln26405His
ENST00000342992.10:c.98130G>C (TTN) ENSP00000343764.6:p.Gln32710His
ENST00000342992.11:c.98130G>C (TTN) ENSP00000343764.6:p.Gln32710His
ENST00000359218.10:c.79014G>C (TTN) ENSP00000352154.5:p.Gln26338His
ENST00000359218.9:c.79014G>C (TTN) ENSP00000352154.5:p.Gln26338His
ENST00000460472.6:c.78639G>C (TTN) ENSP00000434586.1:p.Gln26213His
ENST00000591111.5:c.100911G>C (TTN) ENSP00000465570.1:p.Gln33637His
ENST00000615779.4:c.100911G>C (TTN) ENSP00000483597.1:p.Gln33637His
XM_011511729.1:c.104931G>C (TTN) XP_011510031.1:p.Gln34977His
XM_011511730.1:c.78825G>C (TTN) XP_011510032.1:p.Gln26275His
XM_011511731.1:c.78684G>C (TTN) XP_011510033.1:p.Gln26228His
XM_017004819.1:c.104727G>C (TTN) XP_016860308.1:p.Gln34909His
XM_017004820.1:c.100125G>C (TTN) XP_016860309.1:p.Gln33375His
XM_017004821.1:c.100122G>C (TTN) XP_016860310.1:p.Gln33374His
XM_017004822.1:c.97164G>C (TTN) XP_016860311.1:p.Gln32388His
XM_017004823.1:c.78780G>C (TTN) XP_016860312.1:p.Gln26260His
XM_024453094.1:c.100275G>C (TTN) XP_024308862.1:p.Gln33425His
XM_024453095.1:c.100272G>C (TTN) XP_024308863.1:p.Gln33424His
XM_024453096.1:c.99705G>C (TTN) XP_024308864.1:p.Gln33235His
XM_024453097.1:c.97047G>C (TTN) XP_024308865.1:p.Gln32349His
XM_024453098.1:c.96966G>C (TTN) XP_024308866.1:p.Gln32322His
XM_024453099.1:c.78729G>C (TTN) XP_024308867.1:p.Gln26243His
XM_024453100.1:c.68583G>C (TTN) XP_024308868.1:p.Gln22861His