Canonical Allele Identifier: CA181804
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 178213
dbSNP Id: rs186105748

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178624496A>G , CM000664.2:g.178624496A>G GRCh38
NC_000002.11:g.179489223A>G , CM000664.1:g.179489223A>G GRCh37
NC_000002.10:g.179197468A>G NCBI36
NG_011618.3:g.211307T>C , LRG_391:g.211307T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.37080T>C ENSP00000343764.6:p.Asp12360=
ENST00000342175.11:c.18165T>C ENSP00000340554.6:p.Asp6055=
ENST00000359218.10:c.17964T>C ENSP00000352154.5:p.Asp5988=
ENST00000342175.10:c.18165T>C ENSP00000340554.6:p.Asp6055=
ENST00000342992.10:c.37080T>C ENSP00000343764.6:p.Asp12360=
ENST00000359218.9:c.17964T>C ENSP00000352154.5:p.Asp5988=
ENST00000460472.6:c.17589T>C ENSP00000434586.1:p.Asp5863=
ENST00000589042.5:c.44784T>C MANE Select ENSP00000467141.1:p.Asp14928=
ENST00000591111.5:c.39861T>C ENSP00000465570.1:p.Asp13287=
ENST00000615779.4:c.39861T>C ENSP00000483597.1:p.Asp13287=
NM_001256850.1:c.39861T>C NP_001243779.1:p.Asp13287=
NM_001267550.2:c.44784T>C MANE Select NP_001254479.2:p.Asp14928=
NM_003319.4:c.17589T>C NP_003310.4:p.Asp5863=
NM_133378.4:c.37080T>C NP_596869.4:p.Asp12360=
NM_133432.3:c.17964T>C NP_597676.3:p.Asp5988=
NM_133437.4:c.18165T>C NP_597681.4:p.Asp6055=
XM_011511729.1:c.43881T>C XP_011510031.1:p.Asp14627=
XM_011511730.1:c.17775T>C XP_011510032.1:p.Asp5925=
XM_011511731.1:c.17634T>C XP_011510033.1:p.Asp5878=
XM_017004819.1:c.43677T>C XP_016860308.1:p.Asp14559=
XM_017004820.1:c.39075T>C XP_016860309.1:p.Asp13025=
XM_017004821.1:c.39072T>C XP_016860310.1:p.Asp13024=
XM_017004822.1:c.36114T>C XP_016860311.1:p.Asp12038=
XM_017004823.1:c.17730T>C XP_016860312.1:p.Asp5910=
XM_024453094.1:c.39225T>C XP_024308862.1:p.Asp13075=
XM_024453095.1:c.39222T>C XP_024308863.1:p.Asp13074=
XM_024453096.1:c.38655T>C XP_024308864.1:p.Asp12885=
XM_024453097.1:c.35997T>C XP_024308865.1:p.Asp11999=
XM_024453098.1:c.35916T>C XP_024308866.1:p.Asp11972=
XM_024453099.1:c.17679T>C XP_024308867.1:p.Asp5893=
XM_024453100.1:c.7533T>C XP_024308868.1:p.Asp2511=