Canonical Allele Identifier: CA349535611

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79850G>C (TTN)	ENSP00000343764.6:p.Trp26617Ser
ENST00000342175.11:c.60935G>C (TTN)	ENSP00000340554.6:p.Trp20312Ser
ENST00000359218.10:c.60734G>C (TTN)	ENSP00000352154.5:p.Trp20245Ser
ENST00000342175.10:c.60935G>C (TTN)	ENSP00000340554.6:p.Trp20312Ser
ENST00000342992.10:c.79850G>C (TTN)	ENSP00000343764.6:p.Trp26617Ser
ENST00000359218.9:c.60734G>C (TTN)	ENSP00000352154.5:p.Trp20245Ser
ENST00000460472.6:c.60359G>C (TTN)	ENSP00000434586.1:p.Trp20120Ser
ENST00000589042.5:c.87554G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp29185Ser
ENST00000591111.5:c.82631G>C (TTN)	ENSP00000465570.1:p.Trp27544Ser
ENST00000615779.4:c.82631G>C (TTN)	ENSP00000483597.1:p.Trp27544Ser
NM_001256850.1:c.82631G>C (TTN)	NP_001243779.1:p.Trp27544Ser
NM_001267550.2:c.87554G>C (TTN) MANE Select	NP_001254479.2:p.Trp29185Ser
NM_003319.4:c.60359G>C (TTN)	NP_003310.4:p.Trp20120Ser
NM_133378.4:c.79850G>C (TTN)	NP_596869.4:p.Trp26617Ser
NM_133432.3:c.60734G>C (TTN)	NP_597676.3:p.Trp20245Ser
NM_133437.4:c.60935G>C (TTN)	NP_597681.4:p.Trp20312Ser
NR_038271.1:n.447-13500C>G (TTN-AS1)
NR_038272.1:n.2043+15439C>G (TTN-AS1)
XM_011511729.1:c.86651G>C (TTN)	XP_011510031.1:p.Trp28884Ser
XM_011511730.1:c.60545G>C (TTN)	XP_011510032.1:p.Trp20182Ser
XM_011511731.1:c.60404G>C (TTN)	XP_011510033.1:p.Trp20135Ser
XM_017004819.1:c.86447G>C (TTN)	XP_016860308.1:p.Trp28816Ser
XM_017004820.1:c.81845G>C (TTN)	XP_016860309.1:p.Trp27282Ser
XM_017004821.1:c.81842G>C (TTN)	XP_016860310.1:p.Trp27281Ser
XM_017004822.1:c.78884G>C (TTN)	XP_016860311.1:p.Trp26295Ser
XM_017004823.1:c.60500G>C (TTN)	XP_016860312.1:p.Trp20167Ser
XM_024453094.1:c.81995G>C (TTN)	XP_024308862.1:p.Trp27332Ser
XM_024453095.1:c.81992G>C (TTN)	XP_024308863.1:p.Trp27331Ser
XM_024453096.1:c.81425G>C (TTN)	XP_024308864.1:p.Trp27142Ser
XM_024453097.1:c.78767G>C (TTN)	XP_024308865.1:p.Trp26256Ser
XM_024453098.1:c.78686G>C (TTN)	XP_024308866.1:p.Trp26229Ser
XM_024453099.1:c.60449G>C (TTN)	XP_024308867.1:p.Trp20150Ser
XM_024453100.1:c.50303G>C (TTN)	XP_024308868.1:p.Trp16768Ser