Canonical Allele Identifier: CA60980503

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178605177C>T , CM000664.2:g.178605177C>T	GRCh38
NC_000002.11:g.179469904C>T , CM000664.1:g.179469904C>T	GRCh37
NC_000002.10:g.179178149C>T	NCBI36
NG_011618.3:g.230626G>A , LRG_391:g.230626G>A
NG_051363.1:g.87351C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.54000G>A (TTN) MANE Select	NP_001254479.2:p.Trp18000Ter
ENST00000589042.5:c.54000G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18000Ter
NM_001256850.1:c.49077G>A (TTN)	NP_001243779.1:p.Trp16359Ter
NM_003319.4:c.26805G>A (TTN)	NP_003310.4:p.Trp8935Ter
NM_133378.4:c.46296G>A (TTN)	NP_596869.4:p.Trp15432Ter
NM_133432.3:c.27180G>A (TTN)	NP_597676.3:p.Trp9060Ter
NM_133437.4:c.27381G>A (TTN)	NP_597681.4:p.Trp9127Ter
NR_038271.1:n.683-2990C>T (TTN-AS1)
NR_038272.1:n.4364C>T (TTN-AS1)
ENST00000342175.10:c.27381G>A (TTN)	ENSP00000340554.6:p.Trp9127Ter
ENST00000342175.11:c.27381G>A (TTN)	ENSP00000340554.6:p.Trp9127Ter
ENST00000342992.10:c.46296G>A (TTN)	ENSP00000343764.6:p.Trp15432Ter
ENST00000342992.11:c.46296G>A (TTN)	ENSP00000343764.6:p.Trp15432Ter
ENST00000359218.10:c.27180G>A (TTN)	ENSP00000352154.5:p.Trp9060Ter
ENST00000359218.9:c.27180G>A (TTN)	ENSP00000352154.5:p.Trp9060Ter
ENST00000460472.6:c.26805G>A (TTN)	ENSP00000434586.1:p.Trp8935Ter
ENST00000591111.5:c.49077G>A (TTN)	ENSP00000465570.1:p.Trp16359Ter
ENST00000615779.4:c.49077G>A (TTN)	ENSP00000483597.1:p.Trp16359Ter
XM_011511729.1:c.53097G>A (TTN)	XP_011510031.1:p.Trp17699Ter
XM_011511730.1:c.26991G>A (TTN)	XP_011510032.1:p.Trp8997Ter
XM_011511731.1:c.26850G>A (TTN)	XP_011510033.1:p.Trp8950Ter
XM_017004819.1:c.52893G>A (TTN)	XP_016860308.1:p.Trp17631Ter
XM_017004820.1:c.48291G>A (TTN)	XP_016860309.1:p.Trp16097Ter
XM_017004821.1:c.48288G>A (TTN)	XP_016860310.1:p.Trp16096Ter
XM_017004822.1:c.45330G>A (TTN)	XP_016860311.1:p.Trp15110Ter
XM_017004823.1:c.26946G>A (TTN)	XP_016860312.1:p.Trp8982Ter
XM_024453094.1:c.48441G>A (TTN)	XP_024308862.1:p.Trp16147Ter
XM_024453095.1:c.48438G>A (TTN)	XP_024308863.1:p.Trp16146Ter
XM_024453096.1:c.47871G>A (TTN)	XP_024308864.1:p.Trp15957Ter
XM_024453097.1:c.45213G>A (TTN)	XP_024308865.1:p.Trp15071Ter
XM_024453098.1:c.45132G>A (TTN)	XP_024308866.1:p.Trp15044Ter
XM_024453099.1:c.26895G>A (TTN)	XP_024308867.1:p.Trp8965Ter
XM_024453100.1:c.16749G>A (TTN)	XP_024308868.1:p.Trp5583Ter