Canonical Allele Identifier: CA349480185

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455754A>G (hg19) ; chr2:g.178591027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591027A>G , CM000664.2:g.178591027A>G	GRCh38
NC_000002.11:g.179455754A>G , CM000664.1:g.179455754A>G	GRCh37
NC_000002.10:g.179164000A>G	NCBI36
NG_011618.3:g.244776T>C , LRG_391:g.244776T>C
NG_051363.1:g.73201A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52994T>C (TTN)	ENSP00000343764.6:p.Ile17665Thr
ENST00000342175.11:c.34079T>C (TTN)	ENSP00000340554.6:p.Ile11360Thr
ENST00000359218.10:c.33878T>C (TTN)	ENSP00000352154.5:p.Ile11293Thr
ENST00000342175.10:c.34079T>C (TTN)	ENSP00000340554.6:p.Ile11360Thr
ENST00000342992.10:c.52994T>C (TTN)	ENSP00000343764.6:p.Ile17665Thr
ENST00000359218.9:c.33878T>C (TTN)	ENSP00000352154.5:p.Ile11293Thr
ENST00000460472.6:c.33503T>C (TTN)	ENSP00000434586.1:p.Ile11168Thr
ENST00000589042.5:c.60698T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile20233Thr
ENST00000591111.5:c.55775T>C (TTN)	ENSP00000465570.1:p.Ile18592Thr
ENST00000615779.4:c.55775T>C (TTN)	ENSP00000483597.1:p.Ile18592Thr
NM_001256850.1:c.55775T>C (TTN)	NP_001243779.1:p.Ile18592Thr
NM_001267550.2:c.60698T>C (TTN) MANE Select	NP_001254479.2:p.Ile20233Thr
NM_003319.4:c.33503T>C (TTN)	NP_003310.4:p.Ile11168Thr
NM_133378.4:c.52994T>C (TTN)	NP_596869.4:p.Ile17665Thr
NM_133432.3:c.33878T>C (TTN)	NP_597676.3:p.Ile11293Thr
NM_133437.4:c.34079T>C (TTN)	NP_597681.4:p.Ile11360Thr
NR_038271.1:n.597-6569A>G (TTN-AS1)
NR_038272.1:n.3189-112A>G (TTN-AS1)
XM_011511729.1:c.59795T>C (TTN)	XP_011510031.1:p.Ile19932Thr
XM_011511730.1:c.33689T>C (TTN)	XP_011510032.1:p.Ile11230Thr
XM_011511731.1:c.33548T>C (TTN)	XP_011510033.1:p.Ile11183Thr
XM_017004819.1:c.59591T>C (TTN)	XP_016860308.1:p.Ile19864Thr
XM_017004820.1:c.54989T>C (TTN)	XP_016860309.1:p.Ile18330Thr
XM_017004821.1:c.54986T>C (TTN)	XP_016860310.1:p.Ile18329Thr
XM_017004822.1:c.52028T>C (TTN)	XP_016860311.1:p.Ile17343Thr
XM_017004823.1:c.33644T>C (TTN)	XP_016860312.1:p.Ile11215Thr
XM_024453094.1:c.55139T>C (TTN)	XP_024308862.1:p.Ile18380Thr
XM_024453095.1:c.55136T>C (TTN)	XP_024308863.1:p.Ile18379Thr
XM_024453096.1:c.54569T>C (TTN)	XP_024308864.1:p.Ile18190Thr
XM_024453097.1:c.51911T>C (TTN)	XP_024308865.1:p.Ile17304Thr
XM_024453098.1:c.51830T>C (TTN)	XP_024308866.1:p.Ile17277Thr
XM_024453099.1:c.33593T>C (TTN)	XP_024308867.1:p.Ile11198Thr
XM_024453100.1:c.23447T>C (TTN)	XP_024308868.1:p.Ile7816Thr