Canonical Allele Identifier: CA349466289

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179410945C>A (hg19) ; chr2:g.178546218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546218C>A , CM000664.2:g.178546218C>A	GRCh38
NC_000002.11:g.179410945C>A , CM000664.1:g.179410945C>A	GRCh37
NC_000002.10:g.179119191C>A	NCBI36
NG_011618.3:g.289585G>T , LRG_391:g.289585G>T
NG_051363.1:g.28392C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87409G>T (TTN)	ENSP00000343764.6:p.Val29137Leu
ENST00000342175.11:c.68494G>T (TTN)	ENSP00000340554.6:p.Val22832Leu
ENST00000359218.10:c.68293G>T (TTN)	ENSP00000352154.5:p.Val22765Leu
ENST00000342175.10:c.68494G>T (TTN)	ENSP00000340554.6:p.Val22832Leu
ENST00000342992.10:c.87409G>T (TTN)	ENSP00000343764.6:p.Val29137Leu
ENST00000359218.9:c.68293G>T (TTN)	ENSP00000352154.5:p.Val22765Leu
ENST00000460472.6:c.67918G>T (TTN)	ENSP00000434586.1:p.Val22640Leu
ENST00000589042.5:c.95113G>T (TTN) MANE Select	ENSP00000467141.1:p.Val31705Leu
ENST00000591111.5:c.90190G>T (TTN)	ENSP00000465570.1:p.Val30064Leu
ENST00000615779.4:c.90190G>T (TTN)	ENSP00000483597.1:p.Val30064Leu
NM_001256850.1:c.90190G>T (TTN)	NP_001243779.1:p.Val30064Leu
NM_001267550.2:c.95113G>T (TTN) MANE Select	NP_001254479.2:p.Val31705Leu
NM_003319.4:c.67918G>T (TTN)	NP_003310.4:p.Val22640Leu
NM_133378.4:c.87409G>T (TTN)	NP_596869.4:p.Val29137Leu
NM_133432.3:c.68293G>T (TTN)	NP_597676.3:p.Val22765Leu
NM_133437.4:c.68494G>T (TTN)	NP_597681.4:p.Val22832Leu
NR_038271.1:n.446+22582C>A (TTN-AS1)
NR_038272.1:n.2043+3857C>A (TTN-AS1)
XM_011511729.1:c.94210G>T (TTN)	XP_011510031.1:p.Val31404Leu
XM_011511730.1:c.68104G>T (TTN)	XP_011510032.1:p.Val22702Leu
XM_011511731.1:c.67963G>T (TTN)	XP_011510033.1:p.Val22655Leu
XM_017004819.1:c.94006G>T (TTN)	XP_016860308.1:p.Val31336Leu
XM_017004820.1:c.89404G>T (TTN)	XP_016860309.1:p.Val29802Leu
XM_017004821.1:c.89401G>T (TTN)	XP_016860310.1:p.Val29801Leu
XM_017004822.1:c.86443G>T (TTN)	XP_016860311.1:p.Val28815Leu
XM_017004823.1:c.68059G>T (TTN)	XP_016860312.1:p.Val22687Leu
XM_024453094.1:c.89554G>T (TTN)	XP_024308862.1:p.Val29852Leu
XM_024453095.1:c.89551G>T (TTN)	XP_024308863.1:p.Val29851Leu
XM_024453096.1:c.88984G>T (TTN)	XP_024308864.1:p.Val29662Leu
XM_024453097.1:c.86326G>T (TTN)	XP_024308865.1:p.Val28776Leu
XM_024453098.1:c.86245G>T (TTN)	XP_024308866.1:p.Val28749Leu
XM_024453099.1:c.68008G>T (TTN)	XP_024308867.1:p.Val22670Leu
XM_024453100.1:c.57862G>T (TTN)	XP_024308868.1:p.Val19288Leu