Canonical Allele Identifier: CA430243556

Linked Data

ClinVar Variation Id: 501025
ClinVar RCV Id: RCV000595556
dbSNP Id: rs748822553

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548755A>G , CM000664.2:g.178548755A>G GRCh38
NC_000002.11:g.179413482A>G , CM000664.1:g.179413482A>G GRCh37
NC_000002.10:g.179121728A>G NCBI36
NG_011618.3:g.287048T>C , LRG_391:g.287048T>C
NG_051363.1:g.30929A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85167T>C (TTN) ENSP00000343764.6:p.Ala28389=
ENST00000342175.11:c.66252T>C (TTN) ENSP00000340554.6:p.Ala22084=
ENST00000359218.10:c.66051T>C (TTN) ENSP00000352154.5:p.Ala22017=
ENST00000342175.10:c.66252T>C (TTN) ENSP00000340554.6:p.Ala22084=
ENST00000342992.10:c.85167T>C (TTN) ENSP00000343764.6:p.Ala28389=
ENST00000359218.9:c.66051T>C (TTN) ENSP00000352154.5:p.Ala22017=
ENST00000460472.6:c.65676T>C (TTN) ENSP00000434586.1:p.Ala21892=
ENST00000589042.5:c.92871T>C (TTN) MANE Select ENSP00000467141.1:p.Ala30957=
ENST00000591111.5:c.87948T>C (TTN) ENSP00000465570.1:p.Ala29316=
ENST00000615779.4:c.87948T>C (TTN) ENSP00000483597.1:p.Ala29316=
NM_001256850.1:c.87948T>C (TTN) NP_001243779.1:p.Ala29316=
NM_001267550.2:c.92871T>C (TTN) MANE Select NP_001254479.2:p.Ala30957=
NM_003319.4:c.65676T>C (TTN) NP_003310.4:p.Ala21892=
NM_133378.4:c.85167T>C (TTN) NP_596869.4:p.Ala28389=
NM_133432.3:c.66051T>C (TTN) NP_597676.3:p.Ala22017=
NM_133437.4:c.66252T>C (TTN) NP_597681.4:p.Ala22084=
NR_038271.1:n.447-22545A>G (TTN-AS1)
NR_038272.1:n.2043+6394A>G (TTN-AS1)
XM_011511729.1:c.91968T>C (TTN) XP_011510031.1:p.Ala30656=
XM_011511730.1:c.65862T>C (TTN) XP_011510032.1:p.Ala21954=
XM_011511731.1:c.65721T>C (TTN) XP_011510033.1:p.Ala21907=
XM_017004819.1:c.91764T>C (TTN) XP_016860308.1:p.Ala30588=
XM_017004820.1:c.87162T>C (TTN) XP_016860309.1:p.Ala29054=
XM_017004821.1:c.87159T>C (TTN) XP_016860310.1:p.Ala29053=
XM_017004822.1:c.84201T>C (TTN) XP_016860311.1:p.Ala28067=
XM_017004823.1:c.65817T>C (TTN) XP_016860312.1:p.Ala21939=
XM_024453094.1:c.87312T>C (TTN) XP_024308862.1:p.Ala29104=
XM_024453095.1:c.87309T>C (TTN) XP_024308863.1:p.Ala29103=
XM_024453096.1:c.86742T>C (TTN) XP_024308864.1:p.Ala28914=
XM_024453097.1:c.84084T>C (TTN) XP_024308865.1:p.Ala28028=
XM_024453098.1:c.84003T>C (TTN) XP_024308866.1:p.Ala28001=
XM_024453099.1:c.65766T>C (TTN) XP_024308867.1:p.Ala21922=
XM_024453100.1:c.55620T>C (TTN) XP_024308868.1:p.Ala18540=