Canonical Allele Identifier: CA349532257

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178599376C>T , CM000664.2:g.178599376C>T	GRCh38
NC_000002.11:g.179464103C>T , CM000664.1:g.179464103C>T	GRCh37
NC_000002.10:g.179172348C>T	NCBI36
NG_011618.3:g.236427G>A , LRG_391:g.236427G>A
NG_051363.1:g.81550C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.56417G>A (TTN) MANE Select	NP_001254479.2:p.Trp18806Ter
ENST00000589042.5:c.56417G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18806Ter
NM_001256850.1:c.51494G>A (TTN)	NP_001243779.1:p.Trp17165Ter
NM_003319.4:c.29222G>A (TTN)	NP_003310.4:p.Trp9741Ter
NM_133378.4:c.48713G>A (TTN)	NP_596869.4:p.Trp16238Ter
NM_133432.3:c.29597G>A (TTN)	NP_597676.3:p.Trp9866Ter
NM_133437.4:c.29798G>A (TTN)	NP_597681.4:p.Trp9933Ter
NR_038271.1:n.682+1695C>T (TTN-AS1)
NR_038272.1:n.3569-218C>T (TTN-AS1)
ENST00000342175.10:c.29798G>A (TTN)	ENSP00000340554.6:p.Trp9933Ter
ENST00000342175.11:c.29798G>A (TTN)	ENSP00000340554.6:p.Trp9933Ter
ENST00000342992.10:c.48713G>A (TTN)	ENSP00000343764.6:p.Trp16238Ter
ENST00000342992.11:c.48713G>A (TTN)	ENSP00000343764.6:p.Trp16238Ter
ENST00000359218.10:c.29597G>A (TTN)	ENSP00000352154.5:p.Trp9866Ter
ENST00000359218.9:c.29597G>A (TTN)	ENSP00000352154.5:p.Trp9866Ter
ENST00000460472.6:c.29222G>A (TTN)	ENSP00000434586.1:p.Trp9741Ter
ENST00000591111.5:c.51494G>A (TTN)	ENSP00000465570.1:p.Trp17165Ter
ENST00000615779.4:c.51494G>A (TTN)	ENSP00000483597.1:p.Trp17165Ter
XM_011511729.1:c.55514G>A (TTN)	XP_011510031.1:p.Trp18505Ter
XM_011511730.1:c.29408G>A (TTN)	XP_011510032.1:p.Trp9803Ter
XM_011511731.1:c.29267G>A (TTN)	XP_011510033.1:p.Trp9756Ter
XM_017004819.1:c.55310G>A (TTN)	XP_016860308.1:p.Trp18437Ter
XM_017004820.1:c.50708G>A (TTN)	XP_016860309.1:p.Trp16903Ter
XM_017004821.1:c.50705G>A (TTN)	XP_016860310.1:p.Trp16902Ter
XM_017004822.1:c.47747G>A (TTN)	XP_016860311.1:p.Trp15916Ter
XM_017004823.1:c.29363G>A (TTN)	XP_016860312.1:p.Trp9788Ter
XM_024453094.1:c.50858G>A (TTN)	XP_024308862.1:p.Trp16953Ter
XM_024453095.1:c.50855G>A (TTN)	XP_024308863.1:p.Trp16952Ter
XM_024453096.1:c.50288G>A (TTN)	XP_024308864.1:p.Trp16763Ter
XM_024453097.1:c.47630G>A (TTN)	XP_024308865.1:p.Trp15877Ter
XM_024453098.1:c.47549G>A (TTN)	XP_024308866.1:p.Trp15850Ter
XM_024453099.1:c.29312G>A (TTN)	XP_024308867.1:p.Trp9771Ter
XM_024453100.1:c.19166G>A (TTN)	XP_024308868.1:p.Trp6389Ter