Canonical Allele Identifier: CA349611882

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433650T>A (hg19) ; chr2:g.178568923T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568923T>A , CM000664.2:g.178568923T>A	GRCh38
NC_000002.11:g.179433650T>A , CM000664.1:g.179433650T>A	GRCh37
NC_000002.10:g.179141896T>A	NCBI36
NG_011618.3:g.266880A>T , LRG_391:g.266880A>T
NG_051363.1:g.51097T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69505A>T (TTN)	ENSP00000343764.6:p.Met23169Leu
ENST00000342175.11:c.50590A>T (TTN)	ENSP00000340554.6:p.Met16864Leu
ENST00000359218.10:c.50389A>T (TTN)	ENSP00000352154.5:p.Met16797Leu
ENST00000342175.10:c.50590A>T (TTN)	ENSP00000340554.6:p.Met16864Leu
ENST00000342992.10:c.69505A>T (TTN)	ENSP00000343764.6:p.Met23169Leu
ENST00000359218.9:c.50389A>T (TTN)	ENSP00000352154.5:p.Met16797Leu
ENST00000460472.6:c.50014A>T (TTN)	ENSP00000434586.1:p.Met16672Leu
ENST00000589042.5:c.77209A>T (TTN) MANE Select	ENSP00000467141.1:p.Met25737Leu
ENST00000591111.5:c.72286A>T (TTN)	ENSP00000465570.1:p.Met24096Leu
ENST00000615779.4:c.72286A>T (TTN)	ENSP00000483597.1:p.Met24096Leu
NM_001256850.1:c.72286A>T (TTN)	NP_001243779.1:p.Met24096Leu
NM_001267550.2:c.77209A>T (TTN) MANE Select	NP_001254479.2:p.Met25737Leu
NM_003319.4:c.50014A>T (TTN)	NP_003310.4:p.Met16672Leu
NM_133378.4:c.69505A>T (TTN)	NP_596869.4:p.Met23169Leu
NM_133432.3:c.50389A>T (TTN)	NP_597676.3:p.Met16797Leu
NM_133437.4:c.50590A>T (TTN)	NP_597681.4:p.Met16864Leu
NR_038271.1:n.447-2377T>A (TTN-AS1)
NR_038272.1:n.2044-13649T>A (TTN-AS1)
XM_011511729.1:c.76306A>T (TTN)	XP_011510031.1:p.Met25436Leu
XM_011511730.1:c.50200A>T (TTN)	XP_011510032.1:p.Met16734Leu
XM_011511731.1:c.50059A>T (TTN)	XP_011510033.1:p.Met16687Leu
XM_017004819.1:c.76102A>T (TTN)	XP_016860308.1:p.Met25368Leu
XM_017004820.1:c.71500A>T (TTN)	XP_016860309.1:p.Met23834Leu
XM_017004821.1:c.71497A>T (TTN)	XP_016860310.1:p.Met23833Leu
XM_017004822.1:c.68539A>T (TTN)	XP_016860311.1:p.Met22847Leu
XM_017004823.1:c.50155A>T (TTN)	XP_016860312.1:p.Met16719Leu
XM_024453094.1:c.71650A>T (TTN)	XP_024308862.1:p.Met23884Leu
XM_024453095.1:c.71647A>T (TTN)	XP_024308863.1:p.Met23883Leu
XM_024453096.1:c.71080A>T (TTN)	XP_024308864.1:p.Met23694Leu
XM_024453097.1:c.68422A>T (TTN)	XP_024308865.1:p.Met22808Leu
XM_024453098.1:c.68341A>T (TTN)	XP_024308866.1:p.Met22781Leu
XM_024453099.1:c.50104A>T (TTN)	XP_024308867.1:p.Met16702Leu
XM_024453100.1:c.39958A>T (TTN)	XP_024308868.1:p.Met13320Leu