Canonical Allele Identifier: CA10606596
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 289918
ClinVar RCV Id: RCV000352057
dbSNP Id: rs886044306

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178731911A>G , CM000664.2:g.178731911A>G GRCh38
NC_000002.11:g.179596638A>G , CM000664.1:g.179596638A>G GRCh37
NC_000002.10:g.179304883A>G NCBI36
NG_011618.3:g.103892T>C , LRG_391:g.103892T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.13232T>C ENSP00000343764.6:p.Met4411Thr
ENST00000342175.11:c.13858+6171T>C ENSP00000340554.6:n.13858+6171T>C
ENST00000359218.10:c.13657+6171T>C ENSP00000352154.5:n.13657+6171T>C
ENST00000342175.10:c.13858+6171T>C ENSP00000340554.6:n.13858+6171T>C
ENST00000342992.10:c.13232T>C ENSP00000343764.6:p.Met4411Thr
ENST00000359218.9:c.13657+6171T>C ENSP00000352154.5:n.13657+6171T>C
ENST00000460472.6:c.13282+6171T>C ENSP00000434586.1:n.13282+6171T>C
ENST00000589042.5:c.16964T>C MANE Select ENSP00000467141.1:p.Met5655Thr
ENST00000591111.5:c.16013T>C ENSP00000465570.1:p.Met5338Thr
ENST00000615779.4:c.16013T>C ENSP00000483597.1:p.Met5338Thr
NM_001256850.1:c.16013T>C NP_001243779.1:p.Met5338Thr
NM_001267550.2:c.16964T>C MANE Select NP_001254479.2:p.Met5655Thr
NM_003319.4:c.13282+6171T>C NP_003310.4:n.13282+6171T>C
NM_133378.4:c.13232T>C NP_596869.4:p.Met4411Thr
NM_133432.3:c.13657+6171T>C NP_597676.3:n.13657+6171T>C
NM_133437.4:c.13858+6171T>C NP_597681.4:n.13858+6171T>C
XM_011511729.1:c.16061T>C XP_011510031.1:p.Met5354Thr
XM_011511730.1:c.13468+6171T>C XP_011510032.1:n.13468+6171T>C
XM_011511731.1:c.13327+6171T>C XP_011510033.1:n.13327+6171T>C
XM_017004819.1:c.16016T>C XP_016860308.1:p.Met5339Thr
XM_017004820.1:c.13235T>C XP_016860309.1:p.Met4412Thr
XM_017004821.1:c.13232T>C XP_016860310.1:p.Met4411Thr
XM_017004822.1:c.16016T>C XP_016860311.1:p.Met5339Thr
XM_017004823.1:c.13423+6171T>C XP_016860312.1:n.13423+6171T>C
XM_024453094.1:c.16016T>C XP_024308862.1:p.Met5339Thr
XM_024453095.1:c.16016T>C XP_024308863.1:p.Met5339Thr
XM_024453096.1:c.16016T>C XP_024308864.1:p.Met5339Thr
XM_024453097.1:c.16016T>C XP_024308865.1:p.Met5339Thr
XM_024453098.1:c.16016T>C XP_024308866.1:p.Met5339Thr
XM_024453099.1:c.13423+6171T>C XP_024308867.1:n.13423+6171T>C