Canonical Allele Identifier: CA1988775

Linked Data

ClinVar Variation Id: 332748
dbSNP Id: rs751860205

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561689G>C , CM000664.2:g.178561689G>C GRCh38
NC_000002.11:g.179426416G>C , CM000664.1:g.179426416G>C GRCh37
NC_000002.10:g.179134662G>C NCBI36
NG_011618.3:g.274114C>G , LRG_391:g.274114C>G
NG_051363.1:g.43863G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76739C>G (TTN) ENSP00000343764.6:p.Ala25580Gly
ENST00000342175.11:c.57824C>G (TTN) ENSP00000340554.6:p.Ala19275Gly
ENST00000359218.10:c.57623C>G (TTN) ENSP00000352154.5:p.Ala19208Gly
ENST00000342175.10:c.57824C>G (TTN) ENSP00000340554.6:p.Ala19275Gly
ENST00000342992.10:c.76739C>G (TTN) ENSP00000343764.6:p.Ala25580Gly
ENST00000359218.9:c.57623C>G (TTN) ENSP00000352154.5:p.Ala19208Gly
ENST00000460472.6:c.57248C>G (TTN) ENSP00000434586.1:p.Ala19083Gly
ENST00000589042.5:c.84443C>G (TTN) MANE Select ENSP00000467141.1:p.Ala28148Gly
ENST00000591111.5:c.79520C>G (TTN) ENSP00000465570.1:p.Ala26507Gly
ENST00000615779.4:c.79520C>G (TTN) ENSP00000483597.1:p.Ala26507Gly
NM_001256850.1:c.79520C>G (TTN) NP_001243779.1:p.Ala26507Gly
NM_001267550.2:c.84443C>G (TTN) MANE Select NP_001254479.2:p.Ala28148Gly
NM_003319.4:c.57248C>G (TTN) NP_003310.4:p.Ala19083Gly
NM_133378.4:c.76739C>G (TTN) NP_596869.4:p.Ala25580Gly
NM_133432.3:c.57623C>G (TTN) NP_597676.3:p.Ala19208Gly
NM_133437.4:c.57824C>G (TTN) NP_597681.4:p.Ala19275Gly
NR_038271.1:n.447-9611G>C (TTN-AS1)
NR_038272.1:n.2043+19328G>C (TTN-AS1)
XM_011511729.1:c.83540C>G (TTN) XP_011510031.1:p.Ala27847Gly
XM_011511730.1:c.57434C>G (TTN) XP_011510032.1:p.Ala19145Gly
XM_011511731.1:c.57293C>G (TTN) XP_011510033.1:p.Ala19098Gly
XM_017004819.1:c.83336C>G (TTN) XP_016860308.1:p.Ala27779Gly
XM_017004820.1:c.78734C>G (TTN) XP_016860309.1:p.Ala26245Gly
XM_017004821.1:c.78731C>G (TTN) XP_016860310.1:p.Ala26244Gly
XM_017004822.1:c.75773C>G (TTN) XP_016860311.1:p.Ala25258Gly
XM_017004823.1:c.57389C>G (TTN) XP_016860312.1:p.Ala19130Gly
XM_024453094.1:c.78884C>G (TTN) XP_024308862.1:p.Ala26295Gly
XM_024453095.1:c.78881C>G (TTN) XP_024308863.1:p.Ala26294Gly
XM_024453096.1:c.78314C>G (TTN) XP_024308864.1:p.Ala26105Gly
XM_024453097.1:c.75656C>G (TTN) XP_024308865.1:p.Ala25219Gly
XM_024453098.1:c.75575C>G (TTN) XP_024308866.1:p.Ala25192Gly
XM_024453099.1:c.57338C>G (TTN) XP_024308867.1:p.Ala19113Gly
XM_024453100.1:c.47192C>G (TTN) XP_024308868.1:p.Ala15731Gly