Canonical Allele Identifier: CA61002052

Linked Data

dbSNP Id: rs767956788

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574898G>C , CM000664.2:g.178574898G>C GRCh38
NC_000002.11:g.179439625G>C , CM000664.1:g.179439625G>C GRCh37
NC_000002.10:g.179147871G>C NCBI36
NG_011618.3:g.260905C>G , LRG_391:g.260905C>G
NG_051363.1:g.57072G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63530C>G (TTN) ENSP00000343764.6:p.Thr21177Ser
ENST00000342175.11:c.44615C>G (TTN) ENSP00000340554.6:p.Thr14872Ser
ENST00000359218.10:c.44414C>G (TTN) ENSP00000352154.5:p.Thr14805Ser
ENST00000342175.10:c.44615C>G (TTN) ENSP00000340554.6:p.Thr14872Ser
ENST00000342992.10:c.63530C>G (TTN) ENSP00000343764.6:p.Thr21177Ser
ENST00000359218.9:c.44414C>G (TTN) ENSP00000352154.5:p.Thr14805Ser
ENST00000460472.6:c.44039C>G (TTN) ENSP00000434586.1:p.Thr14680Ser
ENST00000589042.5:c.71234C>G (TTN) MANE Select ENSP00000467141.1:p.Thr23745Ser
ENST00000591111.5:c.66311C>G (TTN) ENSP00000465570.1:p.Thr22104Ser
ENST00000615779.4:c.66311C>G (TTN) ENSP00000483597.1:p.Thr22104Ser
NM_001256850.1:c.66311C>G (TTN) NP_001243779.1:p.Thr22104Ser
NM_001267550.2:c.71234C>G (TTN) MANE Select NP_001254479.2:p.Thr23745Ser
NM_003319.4:c.44039C>G (TTN) NP_003310.4:p.Thr14680Ser
NM_133378.4:c.63530C>G (TTN) NP_596869.4:p.Thr21177Ser
NM_133432.3:c.44414C>G (TTN) NP_597676.3:p.Thr14805Ser
NM_133437.4:c.44615C>G (TTN) NP_597681.4:p.Thr14872Ser
NR_038271.1:n.596+3449G>C (TTN-AS1)
NR_038272.1:n.2044-7674G>C (TTN-AS1)
XM_011511729.1:c.70331C>G (TTN) XP_011510031.1:p.Thr23444Ser
XM_011511730.1:c.44225C>G (TTN) XP_011510032.1:p.Thr14742Ser
XM_011511731.1:c.44084C>G (TTN) XP_011510033.1:p.Thr14695Ser
XM_017004819.1:c.70127C>G (TTN) XP_016860308.1:p.Thr23376Ser
XM_017004820.1:c.65525C>G (TTN) XP_016860309.1:p.Thr21842Ser
XM_017004821.1:c.65522C>G (TTN) XP_016860310.1:p.Thr21841Ser
XM_017004822.1:c.62564C>G (TTN) XP_016860311.1:p.Thr20855Ser
XM_017004823.1:c.44180C>G (TTN) XP_016860312.1:p.Thr14727Ser
XM_024453094.1:c.65675C>G (TTN) XP_024308862.1:p.Thr21892Ser
XM_024453095.1:c.65672C>G (TTN) XP_024308863.1:p.Thr21891Ser
XM_024453096.1:c.65105C>G (TTN) XP_024308864.1:p.Thr21702Ser
XM_024453097.1:c.62447C>G (TTN) XP_024308865.1:p.Thr20816Ser
XM_024453098.1:c.62366C>G (TTN) XP_024308866.1:p.Thr20789Ser
XM_024453099.1:c.44129C>G (TTN) XP_024308867.1:p.Thr14710Ser
XM_024453100.1:c.33983C>G (TTN) XP_024308868.1:p.Thr11328Ser