Canonical Allele Identifier: CA349405307

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530061A>C , CM000664.2:g.178530061A>C GRCh38
NC_000002.11:g.179394788A>C , CM000664.1:g.179394788A>C GRCh37
NC_000002.10:g.179103034A>C NCBI36
NG_011618.3:g.305742T>G , LRG_391:g.305742T>G
NG_051363.1:g.12235A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98726T>G (TTN) ENSP00000343764.6:p.Leu32909Ter
ENST00000342175.11:c.79811T>G (TTN) ENSP00000340554.6:p.Leu26604Ter
ENST00000359218.10:c.79610T>G (TTN) ENSP00000352154.5:p.Leu26537Ter
ENST00000342175.10:c.79811T>G (TTN) ENSP00000340554.6:p.Leu26604Ter
ENST00000342992.10:c.98726T>G (TTN) ENSP00000343764.6:p.Leu32909Ter
ENST00000359218.9:c.79610T>G (TTN) ENSP00000352154.5:p.Leu26537Ter
ENST00000460472.6:c.79235T>G (TTN) ENSP00000434586.1:p.Leu26412Ter
ENST00000589042.5:c.106430T>G (TTN) MANE Select ENSP00000467141.1:p.Leu35477Ter
ENST00000591111.5:c.101507T>G (TTN) ENSP00000465570.1:p.Leu33836Ter
ENST00000615779.4:c.101507T>G (TTN) ENSP00000483597.1:p.Leu33836Ter
NM_001256850.1:c.101507T>G (TTN) NP_001243779.1:p.Leu33836Ter
NM_001267550.2:c.106430T>G (TTN) MANE Select NP_001254479.2:p.Leu35477Ter
NM_003319.4:c.79235T>G (TTN) NP_003310.4:p.Leu26412Ter
NM_133378.4:c.98726T>G (TTN) NP_596869.4:p.Leu32909Ter
NM_133432.3:c.79610T>G (TTN) NP_597676.3:p.Leu26537Ter
NM_133437.4:c.79811T>G (TTN) NP_597681.4:p.Leu26604Ter
NR_038271.1:n.446+6425A>C (TTN-AS1)
NR_038272.1:n.220-5671A>C (TTN-AS1)
XM_011511729.1:c.105527T>G (TTN) XP_011510031.1:p.Leu35176Ter
XM_011511730.1:c.79421T>G (TTN) XP_011510032.1:p.Leu26474Ter
XM_011511731.1:c.79280T>G (TTN) XP_011510033.1:p.Leu26427Ter
XM_017004819.1:c.105323T>G (TTN) XP_016860308.1:p.Leu35108Ter
XM_017004820.1:c.100721T>G (TTN) XP_016860309.1:p.Leu33574Ter
XM_017004821.1:c.100718T>G (TTN) XP_016860310.1:p.Leu33573Ter
XM_017004822.1:c.97760T>G (TTN) XP_016860311.1:p.Leu32587Ter
XM_017004823.1:c.79376T>G (TTN) XP_016860312.1:p.Leu26459Ter
XM_024453094.1:c.100871T>G (TTN) XP_024308862.1:p.Leu33624Ter
XM_024453095.1:c.100868T>G (TTN) XP_024308863.1:p.Leu33623Ter
XM_024453096.1:c.100301T>G (TTN) XP_024308864.1:p.Leu33434Ter
XM_024453097.1:c.97643T>G (TTN) XP_024308865.1:p.Leu32548Ter
XM_024453098.1:c.97562T>G (TTN) XP_024308866.1:p.Leu32521Ter
XM_024453099.1:c.79325T>G (TTN) XP_024308867.1:p.Leu26442Ter
XM_024453100.1:c.69179T>G (TTN) XP_024308868.1:p.Leu23060Ter