Canonical Allele Identifier: CA349406150

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395027A>G (hg19) ; chr2:g.178530300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530300A>G , CM000664.2:g.178530300A>G	GRCh38
NC_000002.11:g.179395027A>G , CM000664.1:g.179395027A>G	GRCh37
NC_000002.10:g.179103273A>G	NCBI36
NG_011618.3:g.305503T>C , LRG_391:g.305503T>C
NG_051363.1:g.12474A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.98611T>C (TTN)	ENSP00000343764.6:p.Phe32871Leu
ENST00000342175.11:c.79696T>C (TTN)	ENSP00000340554.6:p.Phe26566Leu
ENST00000359218.10:c.79495T>C (TTN)	ENSP00000352154.5:p.Phe26499Leu
ENST00000342175.10:c.79696T>C (TTN)	ENSP00000340554.6:p.Phe26566Leu
ENST00000342992.10:c.98611T>C (TTN)	ENSP00000343764.6:p.Phe32871Leu
ENST00000359218.9:c.79495T>C (TTN)	ENSP00000352154.5:p.Phe26499Leu
ENST00000460472.6:c.79120T>C (TTN)	ENSP00000434586.1:p.Phe26374Leu
ENST00000589042.5:c.106315T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe35439Leu
ENST00000591111.5:c.101392T>C (TTN)	ENSP00000465570.1:p.Phe33798Leu
ENST00000615779.4:c.101392T>C (TTN)	ENSP00000483597.1:p.Phe33798Leu
NM_001256850.1:c.101392T>C (TTN)	NP_001243779.1:p.Phe33798Leu
NM_001267550.2:c.106315T>C (TTN) MANE Select	NP_001254479.2:p.Phe35439Leu
NM_003319.4:c.79120T>C (TTN)	NP_003310.4:p.Phe26374Leu
NM_133378.4:c.98611T>C (TTN)	NP_596869.4:p.Phe32871Leu
NM_133432.3:c.79495T>C (TTN)	NP_597676.3:p.Phe26499Leu
NM_133437.4:c.79696T>C (TTN)	NP_597681.4:p.Phe26566Leu
NR_038271.1:n.446+6664A>G (TTN-AS1)
NR_038272.1:n.220-5432A>G (TTN-AS1)
XM_011511729.1:c.105412T>C (TTN)	XP_011510031.1:p.Phe35138Leu
XM_011511730.1:c.79306T>C (TTN)	XP_011510032.1:p.Phe26436Leu
XM_011511731.1:c.79165T>C (TTN)	XP_011510033.1:p.Phe26389Leu
XM_017004819.1:c.105208T>C (TTN)	XP_016860308.1:p.Phe35070Leu
XM_017004820.1:c.100606T>C (TTN)	XP_016860309.1:p.Phe33536Leu
XM_017004821.1:c.100603T>C (TTN)	XP_016860310.1:p.Phe33535Leu
XM_017004822.1:c.97645T>C (TTN)	XP_016860311.1:p.Phe32549Leu
XM_017004823.1:c.79261T>C (TTN)	XP_016860312.1:p.Phe26421Leu
XM_024453094.1:c.100756T>C (TTN)	XP_024308862.1:p.Phe33586Leu
XM_024453095.1:c.100753T>C (TTN)	XP_024308863.1:p.Phe33585Leu
XM_024453096.1:c.100186T>C (TTN)	XP_024308864.1:p.Phe33396Leu
XM_024453097.1:c.97528T>C (TTN)	XP_024308865.1:p.Phe32510Leu
XM_024453098.1:c.97447T>C (TTN)	XP_024308866.1:p.Phe32483Leu
XM_024453099.1:c.79210T>C (TTN)	XP_024308867.1:p.Phe26404Leu
XM_024453100.1:c.69064T>C (TTN)	XP_024308868.1:p.Phe23022Leu