Canonical Allele Identifier: CA349578953

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609366A>G , CM000664.2:g.178609366A>G	GRCh38
NC_000002.11:g.179474093A>G , CM000664.1:g.179474093A>G	GRCh37
NC_000002.10:g.179182338A>G	NCBI36
NG_011618.3:g.226437T>C , LRG_391:g.226437T>C
NG_051363.1:g.91540A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51944T>C (TTN) MANE Select	NP_001254479.2:p.Val17315Ala
ENST00000589042.5:c.51944T>C (TTN) MANE Select	ENSP00000467141.1:p.Val17315Ala
NM_001256850.1:c.47021T>C (TTN)	NP_001243779.1:p.Val15674Ala
NM_003319.4:c.24749T>C (TTN)	NP_003310.4:p.Val8250Ala
NM_133378.4:c.44240T>C (TTN)	NP_596869.4:p.Val14747Ala
NM_133432.3:c.25124T>C (TTN)	NP_597676.3:p.Val8375Ala
NM_133437.4:c.25325T>C (TTN)	NP_597681.4:p.Val8442Ala
NR_038271.1:n.782+1100A>G (TTN-AS1)
ENST00000342175.10:c.25325T>C (TTN)	ENSP00000340554.6:p.Val8442Ala
ENST00000342175.11:c.25325T>C (TTN)	ENSP00000340554.6:p.Val8442Ala
ENST00000342992.10:c.44240T>C (TTN)	ENSP00000343764.6:p.Val14747Ala
ENST00000342992.11:c.44240T>C (TTN)	ENSP00000343764.6:p.Val14747Ala
ENST00000359218.10:c.25124T>C (TTN)	ENSP00000352154.5:p.Val8375Ala
ENST00000359218.9:c.25124T>C (TTN)	ENSP00000352154.5:p.Val8375Ala
ENST00000460472.6:c.24749T>C (TTN)	ENSP00000434586.1:p.Val8250Ala
ENST00000591111.5:c.47021T>C (TTN)	ENSP00000465570.1:p.Val15674Ala
ENST00000615779.4:c.47021T>C (TTN)	ENSP00000483597.1:p.Val15674Ala
XM_011511729.1:c.51041T>C (TTN)	XP_011510031.1:p.Val17014Ala
XM_011511730.1:c.24935T>C (TTN)	XP_011510032.1:p.Val8312Ala
XM_011511731.1:c.24794T>C (TTN)	XP_011510033.1:p.Val8265Ala
XM_017004819.1:c.50837T>C (TTN)	XP_016860308.1:p.Val16946Ala
XM_017004820.1:c.46235T>C (TTN)	XP_016860309.1:p.Val15412Ala
XM_017004821.1:c.46232T>C (TTN)	XP_016860310.1:p.Val15411Ala
XM_017004822.1:c.43274T>C (TTN)	XP_016860311.1:p.Val14425Ala
XM_017004823.1:c.24890T>C (TTN)	XP_016860312.1:p.Val8297Ala
XM_024453094.1:c.46385T>C (TTN)	XP_024308862.1:p.Val15462Ala
XM_024453095.1:c.46382T>C (TTN)	XP_024308863.1:p.Val15461Ala
XM_024453096.1:c.45815T>C (TTN)	XP_024308864.1:p.Val15272Ala
XM_024453097.1:c.43157T>C (TTN)	XP_024308865.1:p.Val14386Ala
XM_024453098.1:c.43076T>C (TTN)	XP_024308866.1:p.Val14359Ala
XM_024453099.1:c.24839T>C (TTN)	XP_024308867.1:p.Val8280Ala
XM_024453100.1:c.14693T>C (TTN)	XP_024308868.1:p.Val4898Ala