Canonical Allele Identifier: CA1989422

Linked Data

ClinVar Variation Id: 405048
dbSNP Id: rs201091376

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566249C>G , CM000664.2:g.178566249C>G GRCh38
NC_000002.11:g.179430976C>G , CM000664.1:g.179430976C>G GRCh37
NC_000002.10:g.179139222C>G NCBI36
NG_011618.3:g.269554G>C , LRG_391:g.269554G>C
NG_051363.1:g.48423C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.53264G>C ENSP00000340554.6:p.Arg17755Pro
ENST00000359218.10:n.53063G>C ENSP00000352154.5:p.Arg17688Pro
ENST00000342175.10:c.53264G>C ENSP00000340554.6:p.Arg17755Pro
ENST00000342992.10:c.72179G>C ENSP00000343764.6:p.Arg24060Pro
ENST00000359218.9:c.53063G>C ENSP00000352154.5:p.Arg17688Pro
ENST00000460472.6:c.52688G>C ENSP00000434586.1:p.Arg17563Pro
ENST00000589042.5:c.79883G>C (TTN) MANE Select ENSP00000467141.1:p.Arg26628Pro
ENST00000591111.5:c.74960G>C ENSP00000465570.1:p.Arg24987Pro
ENST00000615779.4:c.74960G>C ENSP00000483597.1:p.Arg24987Pro
NM_001256850.1:c.74960G>C (TTN) NP_001243779.1:p.Arg24987Pro
NM_001267550.2:c.79883G>C (TTN) MANE Select NP_001254479.2:p.Arg26628Pro
NM_003319.4:c.52688G>C (TTN) NP_003310.4:p.Arg17563Pro
NM_133378.4:c.72179G>C (TTN) NP_596869.4:p.Arg24060Pro
NM_133432.3:c.53063G>C (TTN) NP_597676.3:p.Arg17688Pro
NM_133437.4:c.53264G>C (TTN) NP_597681.4:p.Arg17755Pro
NR_038271.1:n.447-5051C>G (TTN-AS1)
NR_038272.1:n.2044-16323C>G (TTN-AS1)
XM_011511729.1:c.78980G>C (TTN) XP_011510031.1:p.Arg26327Pro
XM_011511730.1:c.52874G>C (TTN) XP_011510032.1:p.Arg17625Pro
XM_011511731.1:c.52733G>C (TTN) XP_011510033.1:p.Arg17578Pro
XM_017004819.1:c.78776G>C (TTN) XP_016860308.1:p.Arg26259Pro
XM_017004820.1:c.74174G>C (TTN) XP_016860309.1:p.Arg24725Pro
XM_017004821.1:c.74171G>C (TTN) XP_016860310.1:p.Arg24724Pro
XM_017004822.1:c.71213G>C (TTN) XP_016860311.1:p.Arg23738Pro
XM_017004823.1:c.52829G>C (TTN) XP_016860312.1:p.Arg17610Pro
XM_024453094.1:c.74324G>C (TTN) XP_024308862.1:p.Arg24775Pro
XM_024453095.1:c.74321G>C (TTN) XP_024308863.1:p.Arg24774Pro
XM_024453096.1:c.73754G>C (TTN) XP_024308864.1:p.Arg24585Pro
XM_024453097.1:c.71096G>C (TTN) XP_024308865.1:p.Arg23699Pro
XM_024453098.1:c.71015G>C (TTN) XP_024308866.1:p.Arg23672Pro
XM_024453099.1:c.52778G>C (TTN) XP_024308867.1:p.Arg17593Pro
XM_024453100.1:c.42632G>C (TTN) XP_024308868.1:p.Arg14211Pro