Canonical Allele Identifier: CA349565645

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179472153A>C (hg19) ; chr2:g.178607426A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607426A>C , CM000664.2:g.178607426A>C	GRCh38
NC_000002.11:g.179472153A>C , CM000664.1:g.179472153A>C	GRCh37
NC_000002.10:g.179180398A>C	NCBI36
NG_011618.3:g.228377T>G , LRG_391:g.228377T>G
NG_051363.1:g.89600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45558T>G (TTN)	ENSP00000343764.6:p.Phe15186Leu
ENST00000342175.11:c.26643T>G (TTN)	ENSP00000340554.6:p.Phe8881Leu
ENST00000359218.10:c.26442T>G (TTN)	ENSP00000352154.5:p.Phe8814Leu
ENST00000342175.10:c.26643T>G (TTN)	ENSP00000340554.6:p.Phe8881Leu
ENST00000342992.10:c.45558T>G (TTN)	ENSP00000343764.6:p.Phe15186Leu
ENST00000359218.9:c.26442T>G (TTN)	ENSP00000352154.5:p.Phe8814Leu
ENST00000460472.6:c.26067T>G (TTN)	ENSP00000434586.1:p.Phe8689Leu
ENST00000589042.5:c.53262T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe17754Leu
ENST00000591111.5:c.48339T>G (TTN)	ENSP00000465570.1:p.Phe16113Leu
ENST00000615779.4:c.48339T>G (TTN)	ENSP00000483597.1:p.Phe16113Leu
NM_001256850.1:c.48339T>G (TTN)	NP_001243779.1:p.Phe16113Leu
NM_001267550.2:c.53262T>G (TTN) MANE Select	NP_001254479.2:p.Phe17754Leu
NM_003319.4:c.26067T>G (TTN)	NP_003310.4:p.Phe8689Leu
NM_133378.4:c.45558T>G (TTN)	NP_596869.4:p.Phe15186Leu
NM_133432.3:c.26442T>G (TTN)	NP_597676.3:p.Phe8814Leu
NM_133437.4:c.26643T>G (TTN)	NP_597681.4:p.Phe8881Leu
NR_038271.1:n.683-741A>C (TTN-AS1)
XM_011511729.1:c.52359T>G (TTN)	XP_011510031.1:p.Phe17453Leu
XM_011511730.1:c.26253T>G (TTN)	XP_011510032.1:p.Phe8751Leu
XM_011511731.1:c.26112T>G (TTN)	XP_011510033.1:p.Phe8704Leu
XM_017004819.1:c.52155T>G (TTN)	XP_016860308.1:p.Phe17385Leu
XM_017004820.1:c.47553T>G (TTN)	XP_016860309.1:p.Phe15851Leu
XM_017004821.1:c.47550T>G (TTN)	XP_016860310.1:p.Phe15850Leu
XM_017004822.1:c.44592T>G (TTN)	XP_016860311.1:p.Phe14864Leu
XM_017004823.1:c.26208T>G (TTN)	XP_016860312.1:p.Phe8736Leu
XM_024453094.1:c.47703T>G (TTN)	XP_024308862.1:p.Phe15901Leu
XM_024453095.1:c.47700T>G (TTN)	XP_024308863.1:p.Phe15900Leu
XM_024453096.1:c.47133T>G (TTN)	XP_024308864.1:p.Phe15711Leu
XM_024453097.1:c.44475T>G (TTN)	XP_024308865.1:p.Phe14825Leu
XM_024453098.1:c.44394T>G (TTN)	XP_024308866.1:p.Phe14798Leu
XM_024453099.1:c.26157T>G (TTN)	XP_024308867.1:p.Phe8719Leu
XM_024453100.1:c.16011T>G (TTN)	XP_024308868.1:p.Phe5337Leu