Canonical Allele Identifier: CA349460450

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545563C>G , CM000664.2:g.178545563C>G GRCh38
NC_000002.11:g.179410290C>G , CM000664.1:g.179410290C>G GRCh37
NC_000002.10:g.179118536C>G NCBI36
NG_011618.3:g.290240G>C , LRG_391:g.290240G>C
NG_051363.1:g.27737C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87843G>C (TTN) ENSP00000343764.6:p.Lys29281Asn
ENST00000342175.11:c.68928G>C (TTN) ENSP00000340554.6:p.Lys22976Asn
ENST00000359218.10:c.68727G>C (TTN) ENSP00000352154.5:p.Lys22909Asn
ENST00000342175.10:c.68928G>C (TTN) ENSP00000340554.6:p.Lys22976Asn
ENST00000342992.10:c.87843G>C (TTN) ENSP00000343764.6:p.Lys29281Asn
ENST00000359218.9:c.68727G>C (TTN) ENSP00000352154.5:p.Lys22909Asn
ENST00000460472.6:c.68352G>C (TTN) ENSP00000434586.1:p.Lys22784Asn
ENST00000589042.5:c.95547G>C (TTN) MANE Select ENSP00000467141.1:p.Lys31849Asn
ENST00000591111.5:c.90624G>C (TTN) ENSP00000465570.1:p.Lys30208Asn
ENST00000615779.4:c.90624G>C (TTN) ENSP00000483597.1:p.Lys30208Asn
NM_001256850.1:c.90624G>C (TTN) NP_001243779.1:p.Lys30208Asn
NM_001267550.2:c.95547G>C (TTN) MANE Select NP_001254479.2:p.Lys31849Asn
NM_003319.4:c.68352G>C (TTN) NP_003310.4:p.Lys22784Asn
NM_133378.4:c.87843G>C (TTN) NP_596869.4:p.Lys29281Asn
NM_133432.3:c.68727G>C (TTN) NP_597676.3:p.Lys22909Asn
NM_133437.4:c.68928G>C (TTN) NP_597681.4:p.Lys22976Asn
NR_038271.1:n.446+21927C>G (TTN-AS1)
NR_038272.1:n.2043+3202C>G (TTN-AS1)
XM_011511729.1:c.94644G>C (TTN) XP_011510031.1:p.Lys31548Asn
XM_011511730.1:c.68538G>C (TTN) XP_011510032.1:p.Lys22846Asn
XM_011511731.1:c.68397G>C (TTN) XP_011510033.1:p.Lys22799Asn
XM_017004819.1:c.94440G>C (TTN) XP_016860308.1:p.Lys31480Asn
XM_017004820.1:c.89838G>C (TTN) XP_016860309.1:p.Lys29946Asn
XM_017004821.1:c.89835G>C (TTN) XP_016860310.1:p.Lys29945Asn
XM_017004822.1:c.86877G>C (TTN) XP_016860311.1:p.Lys28959Asn
XM_017004823.1:c.68493G>C (TTN) XP_016860312.1:p.Lys22831Asn
XM_024453094.1:c.89988G>C (TTN) XP_024308862.1:p.Lys29996Asn
XM_024453095.1:c.89985G>C (TTN) XP_024308863.1:p.Lys29995Asn
XM_024453096.1:c.89418G>C (TTN) XP_024308864.1:p.Lys29806Asn
XM_024453097.1:c.86760G>C (TTN) XP_024308865.1:p.Lys28920Asn
XM_024453098.1:c.86679G>C (TTN) XP_024308866.1:p.Lys28893Asn
XM_024453099.1:c.68442G>C (TTN) XP_024308867.1:p.Lys22814Asn
XM_024453100.1:c.58296G>C (TTN) XP_024308868.1:p.Lys19432Asn