Canonical Allele Identifier: CA349613800

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434048G>T (hg19) ; chr2:g.178569321G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569321G>T , CM000664.2:g.178569321G>T	GRCh38
NC_000002.11:g.179434048G>T , CM000664.1:g.179434048G>T	GRCh37
NC_000002.10:g.179142294G>T	NCBI36
NG_011618.3:g.266482C>A , LRG_391:g.266482C>A
NG_051363.1:g.51495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69107C>A (TTN)	ENSP00000343764.6:p.Pro23036Gln
ENST00000342175.11:c.50192C>A (TTN)	ENSP00000340554.6:p.Pro16731Gln
ENST00000359218.10:c.49991C>A (TTN)	ENSP00000352154.5:p.Pro16664Gln
ENST00000342175.10:c.50192C>A (TTN)	ENSP00000340554.6:p.Pro16731Gln
ENST00000342992.10:c.69107C>A (TTN)	ENSP00000343764.6:p.Pro23036Gln
ENST00000359218.9:c.49991C>A (TTN)	ENSP00000352154.5:p.Pro16664Gln
ENST00000460472.6:c.49616C>A (TTN)	ENSP00000434586.1:p.Pro16539Gln
ENST00000589042.5:c.76811C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro25604Gln
ENST00000591111.5:c.71888C>A (TTN)	ENSP00000465570.1:p.Pro23963Gln
ENST00000615779.4:c.71888C>A (TTN)	ENSP00000483597.1:p.Pro23963Gln
NM_001256850.1:c.71888C>A (TTN)	NP_001243779.1:p.Pro23963Gln
NM_001267550.2:c.76811C>A (TTN) MANE Select	NP_001254479.2:p.Pro25604Gln
NM_003319.4:c.49616C>A (TTN)	NP_003310.4:p.Pro16539Gln
NM_133378.4:c.69107C>A (TTN)	NP_596869.4:p.Pro23036Gln
NM_133432.3:c.49991C>A (TTN)	NP_597676.3:p.Pro16664Gln
NM_133437.4:c.50192C>A (TTN)	NP_597681.4:p.Pro16731Gln
NR_038271.1:n.447-1979G>T (TTN-AS1)
NR_038272.1:n.2044-13251G>T (TTN-AS1)
XM_011511729.1:c.75908C>A (TTN)	XP_011510031.1:p.Pro25303Gln
XM_011511730.1:c.49802C>A (TTN)	XP_011510032.1:p.Pro16601Gln
XM_011511731.1:c.49661C>A (TTN)	XP_011510033.1:p.Pro16554Gln
XM_017004819.1:c.75704C>A (TTN)	XP_016860308.1:p.Pro25235Gln
XM_017004820.1:c.71102C>A (TTN)	XP_016860309.1:p.Pro23701Gln
XM_017004821.1:c.71099C>A (TTN)	XP_016860310.1:p.Pro23700Gln
XM_017004822.1:c.68141C>A (TTN)	XP_016860311.1:p.Pro22714Gln
XM_017004823.1:c.49757C>A (TTN)	XP_016860312.1:p.Pro16586Gln
XM_024453094.1:c.71252C>A (TTN)	XP_024308862.1:p.Pro23751Gln
XM_024453095.1:c.71249C>A (TTN)	XP_024308863.1:p.Pro23750Gln
XM_024453096.1:c.70682C>A (TTN)	XP_024308864.1:p.Pro23561Gln
XM_024453097.1:c.68024C>A (TTN)	XP_024308865.1:p.Pro22675Gln
XM_024453098.1:c.67943C>A (TTN)	XP_024308866.1:p.Pro22648Gln
XM_024453099.1:c.49706C>A (TTN)	XP_024308867.1:p.Pro16569Gln
XM_024453100.1:c.39560C>A (TTN)	XP_024308868.1:p.Pro13187Gln