Canonical Allele Identifier: CA349535311

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5605228 ; COSM5605229 ; COSM5605230 ; COSM5605231
• MyVariant Identifiers: chr2:g.179422481C>T (hg19) ; chr2:g.178557754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557754C>T , CM000664.2:g.178557754C>T	GRCh38
NC_000002.11:g.179422481C>T , CM000664.1:g.179422481C>T	GRCh37
NC_000002.10:g.179130727C>T	NCBI36
NG_011618.3:g.278049G>A , LRG_391:g.278049G>A
NG_051363.1:g.39928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.79896G>A (TTN)	ENSP00000343764.6:p.Met26632Ile
ENST00000342175.11:c.60981G>A (TTN)	ENSP00000340554.6:p.Met20327Ile
ENST00000359218.10:c.60780G>A (TTN)	ENSP00000352154.5:p.Met20260Ile
ENST00000342175.10:c.60981G>A (TTN)	ENSP00000340554.6:p.Met20327Ile
ENST00000342992.10:c.79896G>A (TTN)	ENSP00000343764.6:p.Met26632Ile
ENST00000359218.9:c.60780G>A (TTN)	ENSP00000352154.5:p.Met20260Ile
ENST00000460472.6:c.60405G>A (TTN)	ENSP00000434586.1:p.Met20135Ile
ENST00000589042.5:c.87600G>A (TTN) MANE Select	ENSP00000467141.1:p.Met29200Ile
ENST00000591111.5:c.82677G>A (TTN)	ENSP00000465570.1:p.Met27559Ile
ENST00000615779.4:c.82677G>A (TTN)	ENSP00000483597.1:p.Met27559Ile
NM_001256850.1:c.82677G>A (TTN)	NP_001243779.1:p.Met27559Ile
NM_001267550.2:c.87600G>A (TTN) MANE Select	NP_001254479.2:p.Met29200Ile
NM_003319.4:c.60405G>A (TTN)	NP_003310.4:p.Met20135Ile
NM_133378.4:c.79896G>A (TTN)	NP_596869.4:p.Met26632Ile
NM_133432.3:c.60780G>A (TTN)	NP_597676.3:p.Met20260Ile
NM_133437.4:c.60981G>A (TTN)	NP_597681.4:p.Met20327Ile
NR_038271.1:n.447-13546C>T (TTN-AS1)
NR_038272.1:n.2043+15393C>T (TTN-AS1)
XM_011511729.1:c.86697G>A (TTN)	XP_011510031.1:p.Met28899Ile
XM_011511730.1:c.60591G>A (TTN)	XP_011510032.1:p.Met20197Ile
XM_011511731.1:c.60450G>A (TTN)	XP_011510033.1:p.Met20150Ile
XM_017004819.1:c.86493G>A (TTN)	XP_016860308.1:p.Met28831Ile
XM_017004820.1:c.81891G>A (TTN)	XP_016860309.1:p.Met27297Ile
XM_017004821.1:c.81888G>A (TTN)	XP_016860310.1:p.Met27296Ile
XM_017004822.1:c.78930G>A (TTN)	XP_016860311.1:p.Met26310Ile
XM_017004823.1:c.60546G>A (TTN)	XP_016860312.1:p.Met20182Ile
XM_024453094.1:c.82041G>A (TTN)	XP_024308862.1:p.Met27347Ile
XM_024453095.1:c.82038G>A (TTN)	XP_024308863.1:p.Met27346Ile
XM_024453096.1:c.81471G>A (TTN)	XP_024308864.1:p.Met27157Ile
XM_024453097.1:c.78813G>A (TTN)	XP_024308865.1:p.Met26271Ile
XM_024453098.1:c.78732G>A (TTN)	XP_024308866.1:p.Met26244Ile
XM_024453099.1:c.60495G>A (TTN)	XP_024308867.1:p.Met20165Ile
XM_024453100.1:c.50349G>A (TTN)	XP_024308868.1:p.Met16783Ile