Canonical Allele Identifier: CA349600959

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179477647C>G (hg19) ; chr2:g.178612920C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178612920C>G , CM000664.2:g.178612920C>G	GRCh38
NC_000002.11:g.179477647C>G , CM000664.1:g.179477647C>G	GRCh37
NC_000002.10:g.179185892C>G	NCBI36
NG_011618.3:g.222883G>C , LRG_391:g.222883G>C
NG_051363.1:g.95094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.42097G>C (TTN)	ENSP00000343764.6:p.Val14033Leu
ENST00000342175.11:c.23182G>C (TTN)	ENSP00000340554.6:p.Val7728Leu
ENST00000359218.10:c.22981G>C (TTN)	ENSP00000352154.5:p.Val7661Leu
ENST00000342175.10:c.23182G>C (TTN)	ENSP00000340554.6:p.Val7728Leu
ENST00000342992.10:c.42097G>C (TTN)	ENSP00000343764.6:p.Val14033Leu
ENST00000359218.9:c.22981G>C (TTN)	ENSP00000352154.5:p.Val7661Leu
ENST00000460472.6:c.22606G>C (TTN)	ENSP00000434586.1:p.Val7536Leu
ENST00000589042.5:c.49801G>C (TTN) MANE Select	ENSP00000467141.1:p.Val16601Leu
ENST00000591111.5:c.44878G>C (TTN)	ENSP00000465570.1:p.Val14960Leu
ENST00000615779.4:c.44878G>C (TTN)	ENSP00000483597.1:p.Val14960Leu
NM_001256850.1:c.44878G>C (TTN)	NP_001243779.1:p.Val14960Leu
NM_001267550.2:c.49801G>C (TTN) MANE Select	NP_001254479.2:p.Val16601Leu
NM_003319.4:c.22606G>C (TTN)	NP_003310.4:p.Val7536Leu
NM_133378.4:c.42097G>C (TTN)	NP_596869.4:p.Val14033Leu
NM_133432.3:c.22981G>C (TTN)	NP_597676.3:p.Val7661Leu
NM_133437.4:c.23182G>C (TTN)	NP_597681.4:p.Val7728Leu
NR_038271.1:n.783-1115C>G (TTN-AS1)
XM_011511729.1:c.48898G>C (TTN)	XP_011510031.1:p.Val16300Leu
XM_011511730.1:c.22792G>C (TTN)	XP_011510032.1:p.Val7598Leu
XM_011511731.1:c.22651G>C (TTN)	XP_011510033.1:p.Val7551Leu
XM_017004819.1:c.48694G>C (TTN)	XP_016860308.1:p.Val16232Leu
XM_017004820.1:c.44092G>C (TTN)	XP_016860309.1:p.Val14698Leu
XM_017004821.1:c.44089G>C (TTN)	XP_016860310.1:p.Val14697Leu
XM_017004822.1:c.41131G>C (TTN)	XP_016860311.1:p.Val13711Leu
XM_017004823.1:c.22747G>C (TTN)	XP_016860312.1:p.Val7583Leu
XM_024453094.1:c.44242G>C (TTN)	XP_024308862.1:p.Val14748Leu
XM_024453095.1:c.44239G>C (TTN)	XP_024308863.1:p.Val14747Leu
XM_024453096.1:c.43672G>C (TTN)	XP_024308864.1:p.Val14558Leu
XM_024453097.1:c.41014G>C (TTN)	XP_024308865.1:p.Val13672Leu
XM_024453098.1:c.40933G>C (TTN)	XP_024308866.1:p.Val13645Leu
XM_024453099.1:c.22696G>C (TTN)	XP_024308867.1:p.Val7566Leu
XM_024453100.1:c.12550G>C (TTN)	XP_024308868.1:p.Val4184Leu