Canonical Allele Identifier: CA178724

Linked Data

ClinVar Variation Id: 165972
dbSNP Id: rs377512675

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602528C>G , CM000664.2:g.178602528C>G GRCh38
NC_000002.11:g.179467255C>G , CM000664.1:g.179467255C>G GRCh37
NC_000002.10:g.179175500C>G NCBI36
NG_011618.3:g.233275G>C , LRG_391:g.233275G>C
NG_051363.1:g.84702C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.28255G>C ENSP00000340554.6:p.Gly9419Arg
ENST00000359218.10:n.28054G>C ENSP00000352154.5:p.Gly9352Arg
ENST00000342175.10:c.28255G>C ENSP00000340554.6:p.Gly9419Arg
ENST00000342992.10:c.47170G>C ENSP00000343764.6:p.Gly15724Arg
ENST00000359218.9:c.28054G>C ENSP00000352154.5:p.Gly9352Arg
ENST00000460472.6:c.27679G>C ENSP00000434586.1:p.Gly9227Arg
ENST00000589042.5:c.54874G>C (TTN) MANE Select ENSP00000467141.1:p.Gly18292Arg
ENST00000591111.5:c.49951G>C ENSP00000465570.1:p.Gly16651Arg
ENST00000615779.4:c.49951G>C ENSP00000483597.1:p.Gly16651Arg
NM_001256850.1:c.49951G>C (TTN) NP_001243779.1:p.Gly16651Arg
NM_001267550.2:c.54874G>C (TTN) MANE Select NP_001254479.2:p.Gly18292Arg
NM_003319.4:c.27679G>C (TTN) NP_003310.4:p.Gly9227Arg
NM_133378.4:c.47170G>C (TTN) NP_596869.4:p.Gly15724Arg
NM_133432.3:c.28054G>C (TTN) NP_597676.3:p.Gly9352Arg
NM_133437.4:c.28255G>C (TTN) NP_597681.4:p.Gly9419Arg
NR_038271.1:n.682+4847C>G (TTN-AS1)
NR_038272.1:n.3917+1861C>G (TTN-AS1)
XM_011511729.1:c.53971G>C (TTN) XP_011510031.1:p.Gly17991Arg
XM_011511730.1:c.27865G>C (TTN) XP_011510032.1:p.Gly9289Arg
XM_011511731.1:c.27724G>C (TTN) XP_011510033.1:p.Gly9242Arg
XM_017004819.1:c.53767G>C (TTN) XP_016860308.1:p.Gly17923Arg
XM_017004820.1:c.49165G>C (TTN) XP_016860309.1:p.Gly16389Arg
XM_017004821.1:c.49162G>C (TTN) XP_016860310.1:p.Gly16388Arg
XM_017004822.1:c.46204G>C (TTN) XP_016860311.1:p.Gly15402Arg
XM_017004823.1:c.27820G>C (TTN) XP_016860312.1:p.Gly9274Arg
XM_024453094.1:c.49315G>C (TTN) XP_024308862.1:p.Gly16439Arg
XM_024453095.1:c.49312G>C (TTN) XP_024308863.1:p.Gly16438Arg
XM_024453096.1:c.48745G>C (TTN) XP_024308864.1:p.Gly16249Arg
XM_024453097.1:c.46087G>C (TTN) XP_024308865.1:p.Gly15363Arg
XM_024453098.1:c.46006G>C (TTN) XP_024308866.1:p.Gly15336Arg
XM_024453099.1:c.27769G>C (TTN) XP_024308867.1:p.Gly9257Arg
XM_024453100.1:c.17623G>C (TTN) XP_024308868.1:p.Gly5875Arg