Canonical Allele Identifier: CA349407308

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395365A>T (hg19) ; chr2:g.178530638A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530638A>T , CM000664.2:g.178530638A>T	GRCh38
NC_000002.11:g.179395365A>T , CM000664.1:g.179395365A>T	GRCh37
NC_000002.10:g.179103611A>T	NCBI36
NG_011618.3:g.305165T>A , LRG_391:g.305165T>A
NG_051363.1:g.12812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98273T>A (TTN)	ENSP00000343764.6:p.Leu32758Gln
ENST00000342175.11:c.79358T>A (TTN)	ENSP00000340554.6:p.Leu26453Gln
ENST00000359218.10:c.79157T>A (TTN)	ENSP00000352154.5:p.Leu26386Gln
ENST00000342175.10:c.79358T>A (TTN)	ENSP00000340554.6:p.Leu26453Gln
ENST00000342992.10:c.98273T>A (TTN)	ENSP00000343764.6:p.Leu32758Gln
ENST00000359218.9:c.79157T>A (TTN)	ENSP00000352154.5:p.Leu26386Gln
ENST00000460472.6:c.78782T>A (TTN)	ENSP00000434586.1:p.Leu26261Gln
ENST00000589042.5:c.105977T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35326Gln
ENST00000591111.5:c.101054T>A (TTN)	ENSP00000465570.1:p.Leu33685Gln
ENST00000615779.4:c.101054T>A (TTN)	ENSP00000483597.1:p.Leu33685Gln
NM_001256850.1:c.101054T>A (TTN)	NP_001243779.1:p.Leu33685Gln
NM_001267550.2:c.105977T>A (TTN) MANE Select	NP_001254479.2:p.Leu35326Gln
NM_003319.4:c.78782T>A (TTN)	NP_003310.4:p.Leu26261Gln
NM_133378.4:c.98273T>A (TTN)	NP_596869.4:p.Leu32758Gln
NM_133432.3:c.79157T>A (TTN)	NP_597676.3:p.Leu26386Gln
NM_133437.4:c.79358T>A (TTN)	NP_597681.4:p.Leu26453Gln
NR_038271.1:n.446+7002A>T (TTN-AS1)
NR_038272.1:n.220-5094A>T (TTN-AS1)
XM_011511729.1:c.105074T>A (TTN)	XP_011510031.1:p.Leu35025Gln
XM_011511730.1:c.78968T>A (TTN)	XP_011510032.1:p.Leu26323Gln
XM_011511731.1:c.78827T>A (TTN)	XP_011510033.1:p.Leu26276Gln
XM_017004819.1:c.104870T>A (TTN)	XP_016860308.1:p.Leu34957Gln
XM_017004820.1:c.100268T>A (TTN)	XP_016860309.1:p.Leu33423Gln
XM_017004821.1:c.100265T>A (TTN)	XP_016860310.1:p.Leu33422Gln
XM_017004822.1:c.97307T>A (TTN)	XP_016860311.1:p.Leu32436Gln
XM_017004823.1:c.78923T>A (TTN)	XP_016860312.1:p.Leu26308Gln
XM_024453094.1:c.100418T>A (TTN)	XP_024308862.1:p.Leu33473Gln
XM_024453095.1:c.100415T>A (TTN)	XP_024308863.1:p.Leu33472Gln
XM_024453096.1:c.99848T>A (TTN)	XP_024308864.1:p.Leu33283Gln
XM_024453097.1:c.97190T>A (TTN)	XP_024308865.1:p.Leu32397Gln
XM_024453098.1:c.97109T>A (TTN)	XP_024308866.1:p.Leu32370Gln
XM_024453099.1:c.78872T>A (TTN)	XP_024308867.1:p.Leu26291Gln
XM_024453100.1:c.68726T>A (TTN)	XP_024308868.1:p.Leu22909Gln