Canonical Allele Identifier: CA349467478

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411035T>G (hg19) ; chr2:g.178546308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546308T>G , CM000664.2:g.178546308T>G	GRCh38
NC_000002.11:g.179411035T>G , CM000664.1:g.179411035T>G	GRCh37
NC_000002.10:g.179119281T>G	NCBI36
NG_011618.3:g.289495A>C , LRG_391:g.289495A>C
NG_051363.1:g.28482T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87319A>C (TTN)	ENSP00000343764.6:p.Ile29107Leu
ENST00000342175.11:c.68404A>C (TTN)	ENSP00000340554.6:p.Ile22802Leu
ENST00000359218.10:c.68203A>C (TTN)	ENSP00000352154.5:p.Ile22735Leu
ENST00000342175.10:c.68404A>C (TTN)	ENSP00000340554.6:p.Ile22802Leu
ENST00000342992.10:c.87319A>C (TTN)	ENSP00000343764.6:p.Ile29107Leu
ENST00000359218.9:c.68203A>C (TTN)	ENSP00000352154.5:p.Ile22735Leu
ENST00000460472.6:c.67828A>C (TTN)	ENSP00000434586.1:p.Ile22610Leu
ENST00000589042.5:c.95023A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile31675Leu
ENST00000591111.5:c.90100A>C (TTN)	ENSP00000465570.1:p.Ile30034Leu
ENST00000615779.4:c.90100A>C (TTN)	ENSP00000483597.1:p.Ile30034Leu
NM_001256850.1:c.90100A>C (TTN)	NP_001243779.1:p.Ile30034Leu
NM_001267550.2:c.95023A>C (TTN) MANE Select	NP_001254479.2:p.Ile31675Leu
NM_003319.4:c.67828A>C (TTN)	NP_003310.4:p.Ile22610Leu
NM_133378.4:c.87319A>C (TTN)	NP_596869.4:p.Ile29107Leu
NM_133432.3:c.68203A>C (TTN)	NP_597676.3:p.Ile22735Leu
NM_133437.4:c.68404A>C (TTN)	NP_597681.4:p.Ile22802Leu
NR_038271.1:n.446+22672T>G (TTN-AS1)
NR_038272.1:n.2043+3947T>G (TTN-AS1)
XM_011511729.1:c.94120A>C (TTN)	XP_011510031.1:p.Ile31374Leu
XM_011511730.1:c.68014A>C (TTN)	XP_011510032.1:p.Ile22672Leu
XM_011511731.1:c.67873A>C (TTN)	XP_011510033.1:p.Ile22625Leu
XM_017004819.1:c.93916A>C (TTN)	XP_016860308.1:p.Ile31306Leu
XM_017004820.1:c.89314A>C (TTN)	XP_016860309.1:p.Ile29772Leu
XM_017004821.1:c.89311A>C (TTN)	XP_016860310.1:p.Ile29771Leu
XM_017004822.1:c.86353A>C (TTN)	XP_016860311.1:p.Ile28785Leu
XM_017004823.1:c.67969A>C (TTN)	XP_016860312.1:p.Ile22657Leu
XM_024453094.1:c.89464A>C (TTN)	XP_024308862.1:p.Ile29822Leu
XM_024453095.1:c.89461A>C (TTN)	XP_024308863.1:p.Ile29821Leu
XM_024453096.1:c.88894A>C (TTN)	XP_024308864.1:p.Ile29632Leu
XM_024453097.1:c.86236A>C (TTN)	XP_024308865.1:p.Ile28746Leu
XM_024453098.1:c.86155A>C (TTN)	XP_024308866.1:p.Ile28719Leu
XM_024453099.1:c.67918A>C (TTN)	XP_024308867.1:p.Ile22640Leu
XM_024453100.1:c.57772A>C (TTN)	XP_024308868.1:p.Ile19258Leu