Canonical Allele Identifier: CA242742

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178582182C>G , CM000664.2:g.178582182C>G	GRCh38
NC_000002.11:g.179446909C>G , CM000664.1:g.179446909C>G	GRCh37
NC_000002.10:g.179155155C>G	NCBI36
NG_011618.3:g.253621G>C , LRG_391:g.253621G>C
NG_051363.1:g.64356C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.66187G>C (TTN) MANE Select	NP_001254479.2:p.Val22063Leu
ENST00000589042.5:c.66187G>C (TTN) MANE Select	ENSP00000467141.1:p.Val22063Leu
NM_001256850.1:c.61264G>C (TTN)	NP_001243779.1:p.Val20422Leu
NM_003319.4:c.38992G>C (TTN)	NP_003310.4:p.Val12998Leu
NM_133378.4:c.58483G>C (TTN)	NP_596869.4:p.Val19495Leu
NM_133432.3:c.39367G>C (TTN)	NP_597676.3:p.Val13123Leu
NM_133437.4:c.39568G>C (TTN)	NP_597681.4:p.Val13190Leu
NR_038271.1:n.596+10733C>G (TTN-AS1)
NR_038272.1:n.2044-390C>G (TTN-AS1)
ENST00000342175.10:c.39568G>C (TTN)	ENSP00000340554.6:p.Val13190Leu
ENST00000342175.11:c.39568G>C (TTN)	ENSP00000340554.6:p.Val13190Leu
ENST00000342992.10:c.58483G>C (TTN)	ENSP00000343764.6:p.Val19495Leu
ENST00000342992.11:c.58483G>C (TTN)	ENSP00000343764.6:p.Val19495Leu
ENST00000359218.10:c.39367G>C (TTN)	ENSP00000352154.5:p.Val13123Leu
ENST00000359218.9:c.39367G>C (TTN)	ENSP00000352154.5:p.Val13123Leu
ENST00000460472.6:c.38992G>C (TTN)	ENSP00000434586.1:p.Val12998Leu
ENST00000591111.5:c.61264G>C (TTN)	ENSP00000465570.1:p.Val20422Leu
ENST00000615779.4:c.61264G>C (TTN)	ENSP00000483597.1:p.Val20422Leu
XM_011511729.1:c.65284G>C (TTN)	XP_011510031.1:p.Val21762Leu
XM_011511730.1:c.39178G>C (TTN)	XP_011510032.1:p.Val13060Leu
XM_011511731.1:c.39037G>C (TTN)	XP_011510033.1:p.Val13013Leu
XM_017004819.1:c.65080G>C (TTN)	XP_016860308.1:p.Val21694Leu
XM_017004820.1:c.60478G>C (TTN)	XP_016860309.1:p.Val20160Leu
XM_017004821.1:c.60475G>C (TTN)	XP_016860310.1:p.Val20159Leu
XM_017004822.1:c.57517G>C (TTN)	XP_016860311.1:p.Val19173Leu
XM_017004823.1:c.39133G>C (TTN)	XP_016860312.1:p.Val13045Leu
XM_024453094.1:c.60628G>C (TTN)	XP_024308862.1:p.Val20210Leu
XM_024453095.1:c.60625G>C (TTN)	XP_024308863.1:p.Val20209Leu
XM_024453096.1:c.60058G>C (TTN)	XP_024308864.1:p.Val20020Leu
XM_024453097.1:c.57400G>C (TTN)	XP_024308865.1:p.Val19134Leu
XM_024453098.1:c.57319G>C (TTN)	XP_024308866.1:p.Val19107Leu
XM_024453099.1:c.39082G>C (TTN)	XP_024308867.1:p.Val13028Leu
XM_024453100.1:c.28936G>C (TTN)	XP_024308868.1:p.Val9646Leu