Canonical Allele Identifier: CA349470684

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411405C>A (hg19) ; chr2:g.178546678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546678C>A , CM000664.2:g.178546678C>A	GRCh38
NC_000002.11:g.179411405C>A , CM000664.1:g.179411405C>A	GRCh37
NC_000002.10:g.179119651C>A	NCBI36
NG_011618.3:g.289125G>T , LRG_391:g.289125G>T
NG_051363.1:g.28852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87046G>T (TTN)	ENSP00000343764.6:p.Val29016Leu
ENST00000342175.11:c.68131G>T (TTN)	ENSP00000340554.6:p.Val22711Leu
ENST00000359218.10:c.67930G>T (TTN)	ENSP00000352154.5:p.Val22644Leu
ENST00000342175.10:c.68131G>T (TTN)	ENSP00000340554.6:p.Val22711Leu
ENST00000342992.10:c.87046G>T (TTN)	ENSP00000343764.6:p.Val29016Leu
ENST00000359218.9:c.67930G>T (TTN)	ENSP00000352154.5:p.Val22644Leu
ENST00000460472.6:c.67555G>T (TTN)	ENSP00000434586.1:p.Val22519Leu
ENST00000589042.5:c.94750G>T (TTN) MANE Select	ENSP00000467141.1:p.Val31584Leu
ENST00000591111.5:c.89827G>T (TTN)	ENSP00000465570.1:p.Val29943Leu
ENST00000615779.4:c.89827G>T (TTN)	ENSP00000483597.1:p.Val29943Leu
NM_001256850.1:c.89827G>T (TTN)	NP_001243779.1:p.Val29943Leu
NM_001267550.2:c.94750G>T (TTN) MANE Select	NP_001254479.2:p.Val31584Leu
NM_003319.4:c.67555G>T (TTN)	NP_003310.4:p.Val22519Leu
NM_133378.4:c.87046G>T (TTN)	NP_596869.4:p.Val29016Leu
NM_133432.3:c.67930G>T (TTN)	NP_597676.3:p.Val22644Leu
NM_133437.4:c.68131G>T (TTN)	NP_597681.4:p.Val22711Leu
NR_038271.1:n.446+23042C>A (TTN-AS1)
NR_038272.1:n.2043+4317C>A (TTN-AS1)
XM_011511729.1:c.93847G>T (TTN)	XP_011510031.1:p.Val31283Leu
XM_011511730.1:c.67741G>T (TTN)	XP_011510032.1:p.Val22581Leu
XM_011511731.1:c.67600G>T (TTN)	XP_011510033.1:p.Val22534Leu
XM_017004819.1:c.93643G>T (TTN)	XP_016860308.1:p.Val31215Leu
XM_017004820.1:c.89041G>T (TTN)	XP_016860309.1:p.Val29681Leu
XM_017004821.1:c.89038G>T (TTN)	XP_016860310.1:p.Val29680Leu
XM_017004822.1:c.86080G>T (TTN)	XP_016860311.1:p.Val28694Leu
XM_017004823.1:c.67696G>T (TTN)	XP_016860312.1:p.Val22566Leu
XM_024453094.1:c.89191G>T (TTN)	XP_024308862.1:p.Val29731Leu
XM_024453095.1:c.89188G>T (TTN)	XP_024308863.1:p.Val29730Leu
XM_024453096.1:c.88621G>T (TTN)	XP_024308864.1:p.Val29541Leu
XM_024453097.1:c.85963G>T (TTN)	XP_024308865.1:p.Val28655Leu
XM_024453098.1:c.85882G>T (TTN)	XP_024308866.1:p.Val28628Leu
XM_024453099.1:c.67645G>T (TTN)	XP_024308867.1:p.Val22549Leu
XM_024453100.1:c.57499G>T (TTN)	XP_024308868.1:p.Val19167Leu