Canonical Allele Identifier: CA349554419
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178689120C>G , CM000664.2:g.178689120C>G GRCh38
NC_000002.11:g.179553847C>G , CM000664.1:g.179553847C>G GRCh37
NC_000002.10:g.179262092C>G NCBI36
NG_011618.3:g.146683G>C , LRG_391:g.146683G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.28296G>C ENSP00000343764.6:p.Lys9432Asn
ENST00000342175.11:c.13859-46803G>C ENSP00000340554.6:n.13859-46803G>C
ENST00000359218.10:c.13658-46803G>C ENSP00000352154.5:n.13658-46803G>C
ENST00000342175.10:c.13859-46803G>C ENSP00000340554.6:n.13859-46803G>C
ENST00000342992.10:c.28296G>C ENSP00000343764.6:p.Lys9432Asn
ENST00000359218.9:c.13658-46803G>C ENSP00000352154.5:n.13658-46803G>C
ENST00000414766.5:c.1662G>C ENSP00000401501.1:p.Lys554Asn
ENST00000460472.6:c.13283-46803G>C ENSP00000434586.1:n.13283-46803G>C
ENST00000589042.5:c.32028G>C MANE Select ENSP00000467141.1:p.Lys10676Asn
ENST00000591111.5:c.31077G>C ENSP00000465570.1:p.Lys10359Asn
ENST00000615779.4:c.31077G>C ENSP00000483597.1:p.Lys10359Asn
NM_001256850.1:c.31077G>C NP_001243779.1:p.Lys10359Asn
NM_001267550.2:c.32028G>C MANE Select NP_001254479.2:p.Lys10676Asn
NM_003319.4:c.13283-46803G>C NP_003310.4:n.13283-46803G>C
NM_133378.4:c.28296G>C NP_596869.4:p.Lys9432Asn
NM_133432.3:c.13658-46803G>C NP_597676.3:n.13658-46803G>C
NM_133437.4:c.13859-46803G>C NP_597681.4:n.13859-46803G>C
XM_011511729.1:c.31125G>C XP_011510031.1:p.Lys10375Asn
XM_011511730.1:c.13469-46803G>C XP_011510032.1:n.13469-46803G>C
XM_011511731.1:c.13328-46803G>C XP_011510033.1:n.13328-46803G>C
XM_017004819.1:c.31080G>C XP_016860308.1:p.Lys10360Asn
XM_017004820.1:c.28299G>C XP_016860309.1:p.Lys9433Asn
XM_017004821.1:c.28296G>C XP_016860310.1:p.Lys9432Asn
XM_017004822.1:c.31080G>C XP_016860311.1:p.Lys10360Asn
XM_017004823.1:c.13424-46803G>C XP_016860312.1:n.13424-46803G>C
XM_024453094.1:c.31080G>C XP_024308862.1:p.Lys10360Asn
XM_024453095.1:c.31080G>C XP_024308863.1:p.Lys10360Asn
XM_024453096.1:c.31080G>C XP_024308864.1:p.Lys10360Asn
XM_024453097.1:c.30898+693G>C XP_024308865.1:n.30898+693G>C
XM_024453098.1:c.30898+693G>C XP_024308866.1:n.30898+693G>C
XM_024453099.1:c.13424-46803G>C XP_024308867.1:n.13424-46803G>C