Canonical Allele Identifier: CA349621815

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570551G>C , CM000664.2:g.178570551G>C GRCh38
NC_000002.11:g.179435278G>C , CM000664.1:g.179435278G>C GRCh37
NC_000002.10:g.179143524G>C NCBI36
NG_011618.3:g.265252C>G , LRG_391:g.265252C>G
NG_051363.1:g.52725G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67877C>G (TTN) ENSP00000343764.6:p.Ser22626Ter
ENST00000342175.11:c.48962C>G (TTN) ENSP00000340554.6:p.Ser16321Ter
ENST00000359218.10:c.48761C>G (TTN) ENSP00000352154.5:p.Ser16254Ter
ENST00000342175.10:c.48962C>G (TTN) ENSP00000340554.6:p.Ser16321Ter
ENST00000342992.10:c.67877C>G (TTN) ENSP00000343764.6:p.Ser22626Ter
ENST00000359218.9:c.48761C>G (TTN) ENSP00000352154.5:p.Ser16254Ter
ENST00000460472.6:c.48386C>G (TTN) ENSP00000434586.1:p.Ser16129Ter
ENST00000589042.5:c.75581C>G (TTN) MANE Select ENSP00000467141.1:p.Ser25194Ter
ENST00000591111.5:c.70658C>G (TTN) ENSP00000465570.1:p.Ser23553Ter
ENST00000615779.4:c.70658C>G (TTN) ENSP00000483597.1:p.Ser23553Ter
NM_001256850.1:c.70658C>G (TTN) NP_001243779.1:p.Ser23553Ter
NM_001267550.2:c.75581C>G (TTN) MANE Select NP_001254479.2:p.Ser25194Ter
NM_003319.4:c.48386C>G (TTN) NP_003310.4:p.Ser16129Ter
NM_133378.4:c.67877C>G (TTN) NP_596869.4:p.Ser22626Ter
NM_133432.3:c.48761C>G (TTN) NP_597676.3:p.Ser16254Ter
NM_133437.4:c.48962C>G (TTN) NP_597681.4:p.Ser16321Ter
NR_038271.1:n.447-749G>C (TTN-AS1)
NR_038272.1:n.2044-12021G>C (TTN-AS1)
XM_011511729.1:c.74678C>G (TTN) XP_011510031.1:p.Ser24893Ter
XM_011511730.1:c.48572C>G (TTN) XP_011510032.1:p.Ser16191Ter
XM_011511731.1:c.48431C>G (TTN) XP_011510033.1:p.Ser16144Ter
XM_017004819.1:c.74474C>G (TTN) XP_016860308.1:p.Ser24825Ter
XM_017004820.1:c.69872C>G (TTN) XP_016860309.1:p.Ser23291Ter
XM_017004821.1:c.69869C>G (TTN) XP_016860310.1:p.Ser23290Ter
XM_017004822.1:c.66911C>G (TTN) XP_016860311.1:p.Ser22304Ter
XM_017004823.1:c.48527C>G (TTN) XP_016860312.1:p.Ser16176Ter
XM_024453094.1:c.70022C>G (TTN) XP_024308862.1:p.Ser23341Ter
XM_024453095.1:c.70019C>G (TTN) XP_024308863.1:p.Ser23340Ter
XM_024453096.1:c.69452C>G (TTN) XP_024308864.1:p.Ser23151Ter
XM_024453097.1:c.66794C>G (TTN) XP_024308865.1:p.Ser22265Ter
XM_024453098.1:c.66713C>G (TTN) XP_024308866.1:p.Ser22238Ter
XM_024453099.1:c.48476C>G (TTN) XP_024308867.1:p.Ser16159Ter
XM_024453100.1:c.38330C>G (TTN) XP_024308868.1:p.Ser12777Ter