Canonical Allele Identifier: CA349546308

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602445C>T , CM000664.2:g.178602445C>T	GRCh38
NC_000002.11:g.179467172C>T , CM000664.1:g.179467172C>T	GRCh37
NC_000002.10:g.179175417C>T	NCBI36
NG_011618.3:g.233358G>A , LRG_391:g.233358G>A
NG_051363.1:g.84619C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.54957G>A (TTN) MANE Select	NP_001254479.2:p.Trp18319Ter
ENST00000589042.5:c.54957G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18319Ter
NM_001256850.1:c.50034G>A (TTN)	NP_001243779.1:p.Trp16678Ter
NM_003319.4:c.27762G>A (TTN)	NP_003310.4:p.Trp9254Ter
NM_133378.4:c.47253G>A (TTN)	NP_596869.4:p.Trp15751Ter
NM_133432.3:c.28137G>A (TTN)	NP_597676.3:p.Trp9379Ter
NM_133437.4:c.28338G>A (TTN)	NP_597681.4:p.Trp9446Ter
NR_038271.1:n.682+4764C>T (TTN-AS1)
NR_038272.1:n.3917+1778C>T (TTN-AS1)
ENST00000342175.10:c.28338G>A (TTN)	ENSP00000340554.6:p.Trp9446Ter
ENST00000342175.11:c.28338G>A (TTN)	ENSP00000340554.6:p.Trp9446Ter
ENST00000342992.10:c.47253G>A (TTN)	ENSP00000343764.6:p.Trp15751Ter
ENST00000342992.11:c.47253G>A (TTN)	ENSP00000343764.6:p.Trp15751Ter
ENST00000359218.10:c.28137G>A (TTN)	ENSP00000352154.5:p.Trp9379Ter
ENST00000359218.9:c.28137G>A (TTN)	ENSP00000352154.5:p.Trp9379Ter
ENST00000460472.6:c.27762G>A (TTN)	ENSP00000434586.1:p.Trp9254Ter
ENST00000591111.5:c.50034G>A (TTN)	ENSP00000465570.1:p.Trp16678Ter
ENST00000615779.4:c.50034G>A (TTN)	ENSP00000483597.1:p.Trp16678Ter
XM_011511729.1:c.54054G>A (TTN)	XP_011510031.1:p.Trp18018Ter
XM_011511730.1:c.27948G>A (TTN)	XP_011510032.1:p.Trp9316Ter
XM_011511731.1:c.27807G>A (TTN)	XP_011510033.1:p.Trp9269Ter
XM_017004819.1:c.53850G>A (TTN)	XP_016860308.1:p.Trp17950Ter
XM_017004820.1:c.49248G>A (TTN)	XP_016860309.1:p.Trp16416Ter
XM_017004821.1:c.49245G>A (TTN)	XP_016860310.1:p.Trp16415Ter
XM_017004822.1:c.46287G>A (TTN)	XP_016860311.1:p.Trp15429Ter
XM_017004823.1:c.27903G>A (TTN)	XP_016860312.1:p.Trp9301Ter
XM_024453094.1:c.49398G>A (TTN)	XP_024308862.1:p.Trp16466Ter
XM_024453095.1:c.49395G>A (TTN)	XP_024308863.1:p.Trp16465Ter
XM_024453096.1:c.48828G>A (TTN)	XP_024308864.1:p.Trp16276Ter
XM_024453097.1:c.46170G>A (TTN)	XP_024308865.1:p.Trp15390Ter
XM_024453098.1:c.46089G>A (TTN)	XP_024308866.1:p.Trp15363Ter
XM_024453099.1:c.27852G>A (TTN)	XP_024308867.1:p.Trp9284Ter
XM_024453100.1:c.17706G>A (TTN)	XP_024308868.1:p.Trp5902Ter