Canonical Allele Identifier: CA2005395
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 515025
dbSNP Id: rs115303497

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178778922A>G , CM000664.2:g.178778922A>G GRCh38
NC_000002.11:g.179643649A>G , CM000664.1:g.179643649A>G GRCh37
NC_000002.10:g.179351894A>G NCBI36
NG_011618.3:g.56881T>C , LRG_391:g.56881T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.4160T>C ENSP00000343764.6:p.Leu1387Pro
ENST00000342175.11:c.4022T>C ENSP00000340554.6:p.Leu1341Pro
ENST00000359218.10:c.4022T>C ENSP00000352154.5:p.Leu1341Pro
ENST00000360870.10:c.4160T>C MANE Plus Clinical ENSP00000354117.4:p.Leu1387Pro
ENST00000342175.10:c.4022T>C ENSP00000340554.6:p.Leu1341Pro
ENST00000342992.10:c.4160T>C ENSP00000343764.6:p.Leu1387Pro
ENST00000359218.9:c.4022T>C ENSP00000352154.5:p.Leu1341Pro
ENST00000360870.9:c.4160T>C ENSP00000354117.4:p.Leu1387Pro
ENST00000460472.6:c.4022T>C ENSP00000434586.1:p.Leu1341Pro
ENST00000589042.5:c.4160T>C MANE Select ENSP00000467141.1:p.Leu1387Pro
ENST00000591111.5:c.4160T>C ENSP00000465570.1:p.Leu1387Pro
ENST00000615779.4:c.4160T>C ENSP00000483597.1:p.Leu1387Pro
NM_001256850.1:c.4160T>C NP_001243779.1:p.Leu1387Pro
NM_001267550.2:c.4160T>C MANE Select NP_001254479.2:p.Leu1387Pro
NM_003319.4:c.4022T>C NP_003310.4:p.Leu1341Pro
NM_133378.4:c.4160T>C NP_596869.4:p.Leu1387Pro
NM_133379.4:c.4160T>C , LRG_391t2:c.4160T>C NP_596870.2:p.Leu1387Pro
NM_133432.3:c.4022T>C NP_597676.3:p.Leu1341Pro
NM_133437.4:c.4022T>C NP_597681.4:p.Leu1341Pro
NR_120594.1:n.1830+167A>G
XM_011511729.1:c.4208T>C XP_011510031.1:p.Leu1403Pro
XM_011511730.1:c.4208T>C XP_011510032.1:p.Leu1403Pro
XM_011511731.1:c.4067T>C XP_011510033.1:p.Leu1356Pro
XM_011511732.1:c.4205T>C XP_011510034.1:p.Leu1402Pro
XM_017004819.1:c.4163T>C XP_016860308.1:p.Leu1388Pro
XM_017004820.1:c.4163T>C XP_016860309.1:p.Leu1388Pro
XM_017004821.1:c.4160T>C XP_016860310.1:p.Leu1387Pro
XM_017004822.1:c.4163T>C XP_016860311.1:p.Leu1388Pro
XM_017004823.1:c.4163T>C XP_016860312.1:p.Leu1388Pro
XM_024453094.1:c.4163T>C XP_024308862.1:p.Leu1388Pro
XM_024453095.1:c.4163T>C XP_024308863.1:p.Leu1388Pro
XM_024453096.1:c.4163T>C XP_024308864.1:p.Leu1388Pro
XM_024453097.1:c.4163T>C XP_024308865.1:p.Leu1388Pro
XM_024453098.1:c.4163T>C XP_024308866.1:p.Leu1388Pro
XM_024453099.1:c.4163T>C XP_024308867.1:p.Leu1388Pro
NM_133379.5:c.4160T>C MANE Plus Clinical NP_596870.2:p.Leu1387Pro