Canonical Allele Identifier: CA141889
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47784
dbSNP Id: rs397517815

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178747087_178747119dup , CM000664.2:g.178747087_178747119dup GRCh38
NC_000002.11:g.179611814_179611846dup , CM000664.1:g.179611814_179611846dup GRCh37
NC_000002.10:g.179320059_179320091dup NCBI36
NG_011618.3:g.88688_88720dup , LRG_391:g.88688_88720dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.10360+6009_10360+6041dup ENSP00000343764.6:n.10360+6009_10360+6041...
ENST00000342175.11:c.10799-5194_10799-5162dup ENSP00000340554.6:n.10799-5194_10799-5162...
ENST00000359218.10:c.10598-5194_10598-5162dup ENSP00000352154.5:n.10598-5194_10598-5162...
ENST00000360870.10:c.15285_15317dup MANE Plus Clinical ENSP00000354117.4:p.Tyr5106_Ser5107insSer...
ENST00000342175.10:c.10799-5194_10799-5162dup ENSP00000340554.6:n.10799-5194_10799-5162...
ENST00000342992.10:c.10360+6009_10360+6041dup ENSP00000343764.6:n.10360+6009_10360+6041...
ENST00000359218.9:c.10598-5194_10598-5162dup ENSP00000352154.5:n.10598-5194_10598-5162...
ENST00000360870.9:c.15285_15317dup ENSP00000354117.4:p.Tyr5106_Ser5107insSer...
ENST00000460472.6:c.10223-5194_10223-5162dup ENSP00000434586.1:n.10223-5194_10223-5162...
ENST00000589042.5:c.11312-5194_11312-5162dup MANE Select ENSP00000467141.1:n.11312-5194_11312-5162...
ENST00000591111.5:c.10361-5194_10361-5162dup ENSP00000465570.1:n.10361-5194_10361-5162...
ENST00000615779.4:c.10361-5194_10361-5162dup ENSP00000483597.1:n.10361-5194_10361-5162...
NM_001256850.1:c.10361-5194_10361-5162dup NP_001243779.1:n.10361-5194_10361-5162dup...
NM_001267550.2:c.11312-5194_11312-5162dup MANE Select NP_001254479.2:n.11312-5194_11312-5162dup...
NM_003319.4:c.10223-5194_10223-5162dup NP_003310.4:n.10223-5194_10223-5162dup
NM_133378.4:c.10360+6009_10360+6041dup NP_596869.4:n.10360+6009_10360+6041dup
NM_133379.4:c.15285_15317dup , LRG_391t2:c.15285_15317dup NP_596870.2:p.Tyr5106_Ser5107insSerThrPro...
NM_133432.3:c.10598-5194_10598-5162dup NP_597676.3:n.10598-5194_10598-5162dup
NM_133437.4:c.10799-5194_10799-5162dup NP_597681.4:n.10799-5194_10799-5162dup
XM_011511729.1:c.10409-5194_10409-5162dup XP_011510031.1:n.10409-5194_10409-5162dup...
XM_011511730.1:c.10409-5194_10409-5162dup XP_011510032.1:n.10409-5194_10409-5162dup...
XM_011511731.1:c.10268-5194_10268-5162dup XP_011510033.1:n.10268-5194_10268-5162dup...
XM_011511732.1:c.15330_15362dup XP_011510034.1:p.Tyr5121_Ser5122insSerThr...
XM_017004819.1:c.10364-5194_10364-5162dup XP_016860308.1:n.10364-5194_10364-5162dup...
XM_017004820.1:c.10363+6009_10363+6041dup XP_016860309.1:n.10363+6009_10363+6041dup...
XM_017004821.1:c.10360+6009_10360+6041dup XP_016860310.1:n.10360+6009_10360+6041dup...
XM_017004822.1:c.10364-5194_10364-5162dup XP_016860311.1:n.10364-5194_10364-5162dup...
XM_017004823.1:c.10364-5194_10364-5162dup XP_016860312.1:n.10364-5194_10364-5162dup...
XM_024453094.1:c.10364-5194_10364-5162dup XP_024308862.1:n.10364-5194_10364-5162dup...
XM_024453095.1:c.10364-5194_10364-5162dup XP_024308863.1:n.10364-5194_10364-5162dup...
XM_024453096.1:c.10364-5194_10364-5162dup XP_024308864.1:n.10364-5194_10364-5162dup...
XM_024453097.1:c.10364-5194_10364-5162dup XP_024308865.1:n.10364-5194_10364-5162dup...
XM_024453098.1:c.10364-5194_10364-5162dup XP_024308866.1:n.10364-5194_10364-5162dup...
XM_024453099.1:c.10364-5194_10364-5162dup XP_024308867.1:n.10364-5194_10364-5162dup...
NM_133379.5:c.15285_15317dup MANE Plus Clinical NP_596870.2:p.Tyr5106_Ser5107insSerThrPro...