Canonical Allele Identifier: CA349535610

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179422527C>A (hg19) ; chr2:g.178557800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557800C>A , CM000664.2:g.178557800C>A	GRCh38
NC_000002.11:g.179422527C>A , CM000664.1:g.179422527C>A	GRCh37
NC_000002.10:g.179130773C>A	NCBI36
NG_011618.3:g.278003G>T , LRG_391:g.278003G>T
NG_051363.1:g.39974C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79850G>T (TTN)	ENSP00000343764.6:p.Trp26617Leu
ENST00000342175.11:c.60935G>T (TTN)	ENSP00000340554.6:p.Trp20312Leu
ENST00000359218.10:c.60734G>T (TTN)	ENSP00000352154.5:p.Trp20245Leu
ENST00000342175.10:c.60935G>T (TTN)	ENSP00000340554.6:p.Trp20312Leu
ENST00000342992.10:c.79850G>T (TTN)	ENSP00000343764.6:p.Trp26617Leu
ENST00000359218.9:c.60734G>T (TTN)	ENSP00000352154.5:p.Trp20245Leu
ENST00000460472.6:c.60359G>T (TTN)	ENSP00000434586.1:p.Trp20120Leu
ENST00000589042.5:c.87554G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp29185Leu
ENST00000591111.5:c.82631G>T (TTN)	ENSP00000465570.1:p.Trp27544Leu
ENST00000615779.4:c.82631G>T (TTN)	ENSP00000483597.1:p.Trp27544Leu
NM_001256850.1:c.82631G>T (TTN)	NP_001243779.1:p.Trp27544Leu
NM_001267550.2:c.87554G>T (TTN) MANE Select	NP_001254479.2:p.Trp29185Leu
NM_003319.4:c.60359G>T (TTN)	NP_003310.4:p.Trp20120Leu
NM_133378.4:c.79850G>T (TTN)	NP_596869.4:p.Trp26617Leu
NM_133432.3:c.60734G>T (TTN)	NP_597676.3:p.Trp20245Leu
NM_133437.4:c.60935G>T (TTN)	NP_597681.4:p.Trp20312Leu
NR_038271.1:n.447-13500C>A (TTN-AS1)
NR_038272.1:n.2043+15439C>A (TTN-AS1)
XM_011511729.1:c.86651G>T (TTN)	XP_011510031.1:p.Trp28884Leu
XM_011511730.1:c.60545G>T (TTN)	XP_011510032.1:p.Trp20182Leu
XM_011511731.1:c.60404G>T (TTN)	XP_011510033.1:p.Trp20135Leu
XM_017004819.1:c.86447G>T (TTN)	XP_016860308.1:p.Trp28816Leu
XM_017004820.1:c.81845G>T (TTN)	XP_016860309.1:p.Trp27282Leu
XM_017004821.1:c.81842G>T (TTN)	XP_016860310.1:p.Trp27281Leu
XM_017004822.1:c.78884G>T (TTN)	XP_016860311.1:p.Trp26295Leu
XM_017004823.1:c.60500G>T (TTN)	XP_016860312.1:p.Trp20167Leu
XM_024453094.1:c.81995G>T (TTN)	XP_024308862.1:p.Trp27332Leu
XM_024453095.1:c.81992G>T (TTN)	XP_024308863.1:p.Trp27331Leu
XM_024453096.1:c.81425G>T (TTN)	XP_024308864.1:p.Trp27142Leu
XM_024453097.1:c.78767G>T (TTN)	XP_024308865.1:p.Trp26256Leu
XM_024453098.1:c.78686G>T (TTN)	XP_024308866.1:p.Trp26229Leu
XM_024453099.1:c.60449G>T (TTN)	XP_024308867.1:p.Trp20150Leu
XM_024453100.1:c.50303G>T (TTN)	XP_024308868.1:p.Trp16768Leu