Canonical Allele Identifier: CA349407297

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM3570401 ; COSM3570402 ; COSM3570403 ; COSM3570404
• MyVariant Identifiers: chr2:g.179395360C>T (hg19) ; chr2:g.178530633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530633C>T , CM000664.2:g.178530633C>T	GRCh38
NC_000002.11:g.179395360C>T , CM000664.1:g.179395360C>T	GRCh37
NC_000002.10:g.179103606C>T	NCBI36
NG_011618.3:g.305170G>A , LRG_391:g.305170G>A
NG_051363.1:g.12807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98278G>A (TTN)	ENSP00000343764.6:p.Glu32760Lys
ENST00000342175.11:c.79363G>A (TTN)	ENSP00000340554.6:p.Glu26455Lys
ENST00000359218.10:c.79162G>A (TTN)	ENSP00000352154.5:p.Glu26388Lys
ENST00000342175.10:c.79363G>A (TTN)	ENSP00000340554.6:p.Glu26455Lys
ENST00000342992.10:c.98278G>A (TTN)	ENSP00000343764.6:p.Glu32760Lys
ENST00000359218.9:c.79162G>A (TTN)	ENSP00000352154.5:p.Glu26388Lys
ENST00000460472.6:c.78787G>A (TTN)	ENSP00000434586.1:p.Glu26263Lys
ENST00000589042.5:c.105982G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu35328Lys
ENST00000591111.5:c.101059G>A (TTN)	ENSP00000465570.1:p.Glu33687Lys
ENST00000615779.4:c.101059G>A (TTN)	ENSP00000483597.1:p.Glu33687Lys
NM_001256850.1:c.101059G>A (TTN)	NP_001243779.1:p.Glu33687Lys
NM_001267550.2:c.105982G>A (TTN) MANE Select	NP_001254479.2:p.Glu35328Lys
NM_003319.4:c.78787G>A (TTN)	NP_003310.4:p.Glu26263Lys
NM_133378.4:c.98278G>A (TTN)	NP_596869.4:p.Glu32760Lys
NM_133432.3:c.79162G>A (TTN)	NP_597676.3:p.Glu26388Lys
NM_133437.4:c.79363G>A (TTN)	NP_597681.4:p.Glu26455Lys
NR_038271.1:n.446+6997C>T (TTN-AS1)
NR_038272.1:n.220-5099C>T (TTN-AS1)
XM_011511729.1:c.105079G>A (TTN)	XP_011510031.1:p.Glu35027Lys
XM_011511730.1:c.78973G>A (TTN)	XP_011510032.1:p.Glu26325Lys
XM_011511731.1:c.78832G>A (TTN)	XP_011510033.1:p.Glu26278Lys
XM_017004819.1:c.104875G>A (TTN)	XP_016860308.1:p.Glu34959Lys
XM_017004820.1:c.100273G>A (TTN)	XP_016860309.1:p.Glu33425Lys
XM_017004821.1:c.100270G>A (TTN)	XP_016860310.1:p.Glu33424Lys
XM_017004822.1:c.97312G>A (TTN)	XP_016860311.1:p.Glu32438Lys
XM_017004823.1:c.78928G>A (TTN)	XP_016860312.1:p.Glu26310Lys
XM_024453094.1:c.100423G>A (TTN)	XP_024308862.1:p.Glu33475Lys
XM_024453095.1:c.100420G>A (TTN)	XP_024308863.1:p.Glu33474Lys
XM_024453096.1:c.99853G>A (TTN)	XP_024308864.1:p.Glu33285Lys
XM_024453097.1:c.97195G>A (TTN)	XP_024308865.1:p.Glu32399Lys
XM_024453098.1:c.97114G>A (TTN)	XP_024308866.1:p.Glu32372Lys
XM_024453099.1:c.78877G>A (TTN)	XP_024308867.1:p.Glu26293Lys
XM_024453100.1:c.68731G>A (TTN)	XP_024308868.1:p.Glu22911Lys