Canonical Allele Identifier: CA349512638

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5579867 ; COSM5579868 ; COSM5579869 ; COSM5579870
• MyVariant Identifiers: chr2:g.179417394G>A (hg19) ; chr2:g.178552667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552667G>A , CM000664.2:g.178552667G>A	GRCh38
NC_000002.11:g.179417394G>A , CM000664.1:g.179417394G>A	GRCh37
NC_000002.10:g.179125640G>A	NCBI36
NG_011618.3:g.283136C>T , LRG_391:g.283136C>T
NG_051363.1:g.34841G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82529C>T (TTN)	ENSP00000343764.6:p.Ser27510Phe
ENST00000342175.11:c.63614C>T (TTN)	ENSP00000340554.6:p.Ser21205Phe
ENST00000359218.10:c.63413C>T (TTN)	ENSP00000352154.5:p.Ser21138Phe
ENST00000342175.10:c.63614C>T (TTN)	ENSP00000340554.6:p.Ser21205Phe
ENST00000342992.10:c.82529C>T (TTN)	ENSP00000343764.6:p.Ser27510Phe
ENST00000359218.9:c.63413C>T (TTN)	ENSP00000352154.5:p.Ser21138Phe
ENST00000460472.6:c.63038C>T (TTN)	ENSP00000434586.1:p.Ser21013Phe
ENST00000589042.5:c.90233C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser30078Phe
ENST00000591111.5:c.85310C>T (TTN)	ENSP00000465570.1:p.Ser28437Phe
ENST00000615779.4:c.85310C>T (TTN)	ENSP00000483597.1:p.Ser28437Phe
NM_001256850.1:c.85310C>T (TTN)	NP_001243779.1:p.Ser28437Phe
NM_001267550.2:c.90233C>T (TTN) MANE Select	NP_001254479.2:p.Ser30078Phe
NM_003319.4:c.63038C>T (TTN)	NP_003310.4:p.Ser21013Phe
NM_133378.4:c.82529C>T (TTN)	NP_596869.4:p.Ser27510Phe
NM_133432.3:c.63413C>T (TTN)	NP_597676.3:p.Ser21138Phe
NM_133437.4:c.63614C>T (TTN)	NP_597681.4:p.Ser21205Phe
NR_038271.1:n.447-18633G>A (TTN-AS1)
NR_038272.1:n.2043+10306G>A (TTN-AS1)
XM_011511729.1:c.89330C>T (TTN)	XP_011510031.1:p.Ser29777Phe
XM_011511730.1:c.63224C>T (TTN)	XP_011510032.1:p.Ser21075Phe
XM_011511731.1:c.63083C>T (TTN)	XP_011510033.1:p.Ser21028Phe
XM_017004819.1:c.89126C>T (TTN)	XP_016860308.1:p.Ser29709Phe
XM_017004820.1:c.84524C>T (TTN)	XP_016860309.1:p.Ser28175Phe
XM_017004821.1:c.84521C>T (TTN)	XP_016860310.1:p.Ser28174Phe
XM_017004822.1:c.81563C>T (TTN)	XP_016860311.1:p.Ser27188Phe
XM_017004823.1:c.63179C>T (TTN)	XP_016860312.1:p.Ser21060Phe
XM_024453094.1:c.84674C>T (TTN)	XP_024308862.1:p.Ser28225Phe
XM_024453095.1:c.84671C>T (TTN)	XP_024308863.1:p.Ser28224Phe
XM_024453096.1:c.84104C>T (TTN)	XP_024308864.1:p.Ser28035Phe
XM_024453097.1:c.81446C>T (TTN)	XP_024308865.1:p.Ser27149Phe
XM_024453098.1:c.81365C>T (TTN)	XP_024308866.1:p.Ser27122Phe
XM_024453099.1:c.63128C>T (TTN)	XP_024308867.1:p.Ser21043Phe
XM_024453100.1:c.52982C>T (TTN)	XP_024308868.1:p.Ser17661Phe