Canonical Allele Identifier: CA349436892

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584863G>C , CM000664.2:g.178584863G>C GRCh38
NC_000002.11:g.179449590G>C , CM000664.1:g.179449590G>C GRCh37
NC_000002.10:g.179157836G>C NCBI36
NG_011618.3:g.250940C>G , LRG_391:g.250940C>G
NG_051363.1:g.67037G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57074C>G (TTN) ENSP00000343764.6:p.Thr19025Ser
ENST00000342175.11:c.38159C>G (TTN) ENSP00000340554.6:p.Thr12720Ser
ENST00000359218.10:c.37958C>G (TTN) ENSP00000352154.5:p.Thr12653Ser
ENST00000342175.10:c.38159C>G (TTN) ENSP00000340554.6:p.Thr12720Ser
ENST00000342992.10:c.57074C>G (TTN) ENSP00000343764.6:p.Thr19025Ser
ENST00000359218.9:c.37958C>G (TTN) ENSP00000352154.5:p.Thr12653Ser
ENST00000460472.6:c.37583C>G (TTN) ENSP00000434586.1:p.Thr12528Ser
ENST00000589042.5:c.64778C>G (TTN) MANE Select ENSP00000467141.1:p.Thr21593Ser
ENST00000591111.5:c.59855C>G (TTN) ENSP00000465570.1:p.Thr19952Ser
ENST00000615779.4:c.59855C>G (TTN) ENSP00000483597.1:p.Thr19952Ser
NM_001256850.1:c.59855C>G (TTN) NP_001243779.1:p.Thr19952Ser
NM_001267550.2:c.64778C>G (TTN) MANE Select NP_001254479.2:p.Thr21593Ser
NM_003319.4:c.37583C>G (TTN) NP_003310.4:p.Thr12528Ser
NM_133378.4:c.57074C>G (TTN) NP_596869.4:p.Thr19025Ser
NM_133432.3:c.37958C>G (TTN) NP_597676.3:p.Thr12653Ser
NM_133437.4:c.38159C>G (TTN) NP_597681.4:p.Thr12720Ser
NR_038271.1:n.597-12733G>C (TTN-AS1)
NR_038272.1:n.3058G>C (TTN-AS1)
XM_011511729.1:c.63875C>G (TTN) XP_011510031.1:p.Thr21292Ser
XM_011511730.1:c.37769C>G (TTN) XP_011510032.1:p.Thr12590Ser
XM_011511731.1:c.37628C>G (TTN) XP_011510033.1:p.Thr12543Ser
XM_017004819.1:c.63671C>G (TTN) XP_016860308.1:p.Thr21224Ser
XM_017004820.1:c.59069C>G (TTN) XP_016860309.1:p.Thr19690Ser
XM_017004821.1:c.59066C>G (TTN) XP_016860310.1:p.Thr19689Ser
XM_017004822.1:c.56108C>G (TTN) XP_016860311.1:p.Thr18703Ser
XM_017004823.1:c.37724C>G (TTN) XP_016860312.1:p.Thr12575Ser
XM_024453094.1:c.59219C>G (TTN) XP_024308862.1:p.Thr19740Ser
XM_024453095.1:c.59216C>G (TTN) XP_024308863.1:p.Thr19739Ser
XM_024453096.1:c.58649C>G (TTN) XP_024308864.1:p.Thr19550Ser
XM_024453097.1:c.55991C>G (TTN) XP_024308865.1:p.Thr18664Ser
XM_024453098.1:c.55910C>G (TTN) XP_024308866.1:p.Thr18637Ser
XM_024453099.1:c.37673C>G (TTN) XP_024308867.1:p.Thr12558Ser
XM_024453100.1:c.27527C>G (TTN) XP_024308868.1:p.Thr9176Ser