Canonical Allele Identifier: CA349407266

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1010138 ; COSM1010140 ; COSM1010141 ; COSM1590973
• MyVariant Identifiers: chr2:g.179395348A>C (hg19) ; chr2:g.178530621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530621A>C , CM000664.2:g.178530621A>C	GRCh38
NC_000002.11:g.179395348A>C , CM000664.1:g.179395348A>C	GRCh37
NC_000002.10:g.179103594A>C	NCBI36
NG_011618.3:g.305182T>G , LRG_391:g.305182T>G
NG_051363.1:g.12795A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98290T>G (TTN)	ENSP00000343764.6:p.Phe32764Val
ENST00000342175.11:c.79375T>G (TTN)	ENSP00000340554.6:p.Phe26459Val
ENST00000359218.10:c.79174T>G (TTN)	ENSP00000352154.5:p.Phe26392Val
ENST00000342175.10:c.79375T>G (TTN)	ENSP00000340554.6:p.Phe26459Val
ENST00000342992.10:c.98290T>G (TTN)	ENSP00000343764.6:p.Phe32764Val
ENST00000359218.9:c.79174T>G (TTN)	ENSP00000352154.5:p.Phe26392Val
ENST00000460472.6:c.78799T>G (TTN)	ENSP00000434586.1:p.Phe26267Val
ENST00000589042.5:c.105994T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe35332Val
ENST00000591111.5:c.101071T>G (TTN)	ENSP00000465570.1:p.Phe33691Val
ENST00000615779.4:c.101071T>G (TTN)	ENSP00000483597.1:p.Phe33691Val
NM_001256850.1:c.101071T>G (TTN)	NP_001243779.1:p.Phe33691Val
NM_001267550.2:c.105994T>G (TTN) MANE Select	NP_001254479.2:p.Phe35332Val
NM_003319.4:c.78799T>G (TTN)	NP_003310.4:p.Phe26267Val
NM_133378.4:c.98290T>G (TTN)	NP_596869.4:p.Phe32764Val
NM_133432.3:c.79174T>G (TTN)	NP_597676.3:p.Phe26392Val
NM_133437.4:c.79375T>G (TTN)	NP_597681.4:p.Phe26459Val
NR_038271.1:n.446+6985A>C (TTN-AS1)
NR_038272.1:n.220-5111A>C (TTN-AS1)
XM_011511729.1:c.105091T>G (TTN)	XP_011510031.1:p.Phe35031Val
XM_011511730.1:c.78985T>G (TTN)	XP_011510032.1:p.Phe26329Val
XM_011511731.1:c.78844T>G (TTN)	XP_011510033.1:p.Phe26282Val
XM_017004819.1:c.104887T>G (TTN)	XP_016860308.1:p.Phe34963Val
XM_017004820.1:c.100285T>G (TTN)	XP_016860309.1:p.Phe33429Val
XM_017004821.1:c.100282T>G (TTN)	XP_016860310.1:p.Phe33428Val
XM_017004822.1:c.97324T>G (TTN)	XP_016860311.1:p.Phe32442Val
XM_017004823.1:c.78940T>G (TTN)	XP_016860312.1:p.Phe26314Val
XM_024453094.1:c.100435T>G (TTN)	XP_024308862.1:p.Phe33479Val
XM_024453095.1:c.100432T>G (TTN)	XP_024308863.1:p.Phe33478Val
XM_024453096.1:c.99865T>G (TTN)	XP_024308864.1:p.Phe33289Val
XM_024453097.1:c.97207T>G (TTN)	XP_024308865.1:p.Phe32403Val
XM_024453098.1:c.97126T>G (TTN)	XP_024308866.1:p.Phe32376Val
XM_024453099.1:c.78889T>G (TTN)	XP_024308867.1:p.Phe26297Val
XM_024453100.1:c.68743T>G (TTN)	XP_024308868.1:p.Phe22915Val