Canonical Allele Identifier: CA1990530

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573906A>C , CM000664.2:g.178573906A>C	GRCh38
NC_000002.11:g.179438633A>C , CM000664.1:g.179438633A>C	GRCh37
NC_000002.10:g.179146879A>C	NCBI36
NG_011618.3:g.261897T>G , LRG_391:g.261897T>G
NG_051363.1:g.56080A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.72226T>G (TTN) MANE Select	NP_001254479.2:p.Leu24076Val
ENST00000589042.5:c.72226T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu24076Val
NM_001256850.1:c.67303T>G (TTN)	NP_001243779.1:p.Leu22435Val
NM_003319.4:c.45031T>G (TTN)	NP_003310.4:p.Leu15011Val
NM_133378.4:c.64522T>G (TTN)	NP_596869.4:p.Leu21508Val
NM_133432.3:c.45406T>G (TTN)	NP_597676.3:p.Leu15136Val
NM_133437.4:c.45607T>G (TTN)	NP_597681.4:p.Leu15203Val
NR_038271.1:n.596+2457A>C (TTN-AS1)
NR_038272.1:n.2044-8666A>C (TTN-AS1)
ENST00000342175.10:c.45607T>G (TTN)	ENSP00000340554.6:p.Leu15203Val
ENST00000342175.11:c.45607T>G (TTN)	ENSP00000340554.6:p.Leu15203Val
ENST00000342992.10:c.64522T>G (TTN)	ENSP00000343764.6:p.Leu21508Val
ENST00000342992.11:c.64522T>G (TTN)	ENSP00000343764.6:p.Leu21508Val
ENST00000359218.10:c.45406T>G (TTN)	ENSP00000352154.5:p.Leu15136Val
ENST00000359218.9:c.45406T>G (TTN)	ENSP00000352154.5:p.Leu15136Val
ENST00000460472.6:c.45031T>G (TTN)	ENSP00000434586.1:p.Leu15011Val
ENST00000591111.5:c.67303T>G (TTN)	ENSP00000465570.1:p.Leu22435Val
ENST00000615779.4:c.67303T>G (TTN)	ENSP00000483597.1:p.Leu22435Val
XM_011511729.1:c.71323T>G (TTN)	XP_011510031.1:p.Leu23775Val
XM_011511730.1:c.45217T>G (TTN)	XP_011510032.1:p.Leu15073Val
XM_011511731.1:c.45076T>G (TTN)	XP_011510033.1:p.Leu15026Val
XM_017004819.1:c.71119T>G (TTN)	XP_016860308.1:p.Leu23707Val
XM_017004820.1:c.66517T>G (TTN)	XP_016860309.1:p.Leu22173Val
XM_017004821.1:c.66514T>G (TTN)	XP_016860310.1:p.Leu22172Val
XM_017004822.1:c.63556T>G (TTN)	XP_016860311.1:p.Leu21186Val
XM_017004823.1:c.45172T>G (TTN)	XP_016860312.1:p.Leu15058Val
XM_024453094.1:c.66667T>G (TTN)	XP_024308862.1:p.Leu22223Val
XM_024453095.1:c.66664T>G (TTN)	XP_024308863.1:p.Leu22222Val
XM_024453096.1:c.66097T>G (TTN)	XP_024308864.1:p.Leu22033Val
XM_024453097.1:c.63439T>G (TTN)	XP_024308865.1:p.Leu21147Val
XM_024453098.1:c.63358T>G (TTN)	XP_024308866.1:p.Leu21120Val
XM_024453099.1:c.45121T>G (TTN)	XP_024308867.1:p.Leu15041Val
XM_024453100.1:c.34975T>G (TTN)	XP_024308868.1:p.Leu11659Val