Canonical Allele Identifier: CA349426091

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536357C>A , CM000664.2:g.178536357C>A	GRCh38
NC_000002.11:g.179401084C>A , CM000664.1:g.179401084C>A	GRCh37
NC_000002.10:g.179109330C>A	NCBI36
NG_011618.3:g.299446G>T , LRG_391:g.299446G>T
NG_051363.1:g.18531C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.100390G>T (TTN) MANE Select	NP_001254479.2:p.Glu33464Ter
ENST00000589042.5:c.100390G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu33464Ter
NM_001256850.1:c.95467G>T (TTN)	NP_001243779.1:p.Glu31823Ter
NM_003319.4:c.73195G>T (TTN)	NP_003310.4:p.Glu24399Ter
NM_133378.4:c.92686G>T (TTN)	NP_596869.4:p.Glu30896Ter
NM_133432.3:c.73570G>T (TTN)	NP_597676.3:p.Glu24524Ter
NM_133437.4:c.73771G>T (TTN)	NP_597681.4:p.Glu24591Ter
NR_038271.1:n.446+12721C>A (TTN-AS1)
NR_038272.1:n.316+529C>A (TTN-AS1)
ENST00000342175.10:c.73771G>T (TTN)	ENSP00000340554.6:p.Glu24591Ter
ENST00000342175.11:c.73771G>T (TTN)	ENSP00000340554.6:p.Glu24591Ter
ENST00000342992.10:c.92686G>T (TTN)	ENSP00000343764.6:p.Glu30896Ter
ENST00000342992.11:c.92686G>T (TTN)	ENSP00000343764.6:p.Glu30896Ter
ENST00000359218.10:c.73570G>T (TTN)	ENSP00000352154.5:p.Glu24524Ter
ENST00000359218.9:c.73570G>T (TTN)	ENSP00000352154.5:p.Glu24524Ter
ENST00000460472.6:c.73195G>T (TTN)	ENSP00000434586.1:p.Glu24399Ter
ENST00000591111.5:c.95467G>T (TTN)	ENSP00000465570.1:p.Glu31823Ter
ENST00000615779.4:c.95467G>T (TTN)	ENSP00000483597.1:p.Glu31823Ter
XM_011511729.1:c.99487G>T (TTN)	XP_011510031.1:p.Glu33163Ter
XM_011511730.1:c.73381G>T (TTN)	XP_011510032.1:p.Glu24461Ter
XM_011511731.1:c.73240G>T (TTN)	XP_011510033.1:p.Glu24414Ter
XM_017004819.1:c.99283G>T (TTN)	XP_016860308.1:p.Glu33095Ter
XM_017004820.1:c.94681G>T (TTN)	XP_016860309.1:p.Glu31561Ter
XM_017004821.1:c.94678G>T (TTN)	XP_016860310.1:p.Glu31560Ter
XM_017004822.1:c.91720G>T (TTN)	XP_016860311.1:p.Glu30574Ter
XM_017004823.1:c.73336G>T (TTN)	XP_016860312.1:p.Glu24446Ter
XM_024453094.1:c.94831G>T (TTN)	XP_024308862.1:p.Glu31611Ter
XM_024453095.1:c.94828G>T (TTN)	XP_024308863.1:p.Glu31610Ter
XM_024453096.1:c.94261G>T (TTN)	XP_024308864.1:p.Glu31421Ter
XM_024453097.1:c.91603G>T (TTN)	XP_024308865.1:p.Glu30535Ter
XM_024453098.1:c.91522G>T (TTN)	XP_024308866.1:p.Glu30508Ter
XM_024453099.1:c.73285G>T (TTN)	XP_024308867.1:p.Glu24429Ter
XM_024453100.1:c.63139G>T (TTN)	XP_024308868.1:p.Glu21047Ter