Canonical Allele Identifier: CA349411896

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM3837510 ; COSM3837511 ; COSM3837512 ; COSM3837513
• MyVariant Identifiers: chr2:g.179396976T>C (hg19) ; chr2:g.178532249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532249T>C , CM000664.2:g.178532249T>C	GRCh38
NC_000002.11:g.179396976T>C , CM000664.1:g.179396976T>C	GRCh37
NC_000002.10:g.179105222T>C	NCBI36
NG_011618.3:g.303554A>G , LRG_391:g.303554A>G
NG_051363.1:g.14423T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96662A>G (TTN)	ENSP00000343764.6:p.Glu32221Gly
ENST00000342175.11:c.77747A>G (TTN)	ENSP00000340554.6:p.Glu25916Gly
ENST00000359218.10:c.77546A>G (TTN)	ENSP00000352154.5:p.Glu25849Gly
ENST00000342175.10:c.77747A>G (TTN)	ENSP00000340554.6:p.Glu25916Gly
ENST00000342992.10:c.96662A>G (TTN)	ENSP00000343764.6:p.Glu32221Gly
ENST00000359218.9:c.77546A>G (TTN)	ENSP00000352154.5:p.Glu25849Gly
ENST00000460472.6:c.77171A>G (TTN)	ENSP00000434586.1:p.Glu25724Gly
ENST00000589042.5:c.104366A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu34789Gly
ENST00000591111.5:c.99443A>G (TTN)	ENSP00000465570.1:p.Glu33148Gly
ENST00000615779.4:c.99443A>G (TTN)	ENSP00000483597.1:p.Glu33148Gly
NM_001256850.1:c.99443A>G (TTN)	NP_001243779.1:p.Glu33148Gly
NM_001267550.2:c.104366A>G (TTN) MANE Select	NP_001254479.2:p.Glu34789Gly
NM_003319.4:c.77171A>G (TTN)	NP_003310.4:p.Glu25724Gly
NM_133378.4:c.96662A>G (TTN)	NP_596869.4:p.Glu32221Gly
NM_133432.3:c.77546A>G (TTN)	NP_597676.3:p.Glu25849Gly
NM_133437.4:c.77747A>G (TTN)	NP_597681.4:p.Glu25916Gly
NR_038271.1:n.446+8613T>C (TTN-AS1)
NR_038272.1:n.220-3483T>C (TTN-AS1)
XM_011511729.1:c.103463A>G (TTN)	XP_011510031.1:p.Glu34488Gly
XM_011511730.1:c.77357A>G (TTN)	XP_011510032.1:p.Glu25786Gly
XM_011511731.1:c.77216A>G (TTN)	XP_011510033.1:p.Glu25739Gly
XM_017004819.1:c.103259A>G (TTN)	XP_016860308.1:p.Glu34420Gly
XM_017004820.1:c.98657A>G (TTN)	XP_016860309.1:p.Glu32886Gly
XM_017004821.1:c.98654A>G (TTN)	XP_016860310.1:p.Glu32885Gly
XM_017004822.1:c.95696A>G (TTN)	XP_016860311.1:p.Glu31899Gly
XM_017004823.1:c.77312A>G (TTN)	XP_016860312.1:p.Glu25771Gly
XM_024453094.1:c.98807A>G (TTN)	XP_024308862.1:p.Glu32936Gly
XM_024453095.1:c.98804A>G (TTN)	XP_024308863.1:p.Glu32935Gly
XM_024453096.1:c.98237A>G (TTN)	XP_024308864.1:p.Glu32746Gly
XM_024453097.1:c.95579A>G (TTN)	XP_024308865.1:p.Glu31860Gly
XM_024453098.1:c.95498A>G (TTN)	XP_024308866.1:p.Glu31833Gly
XM_024453099.1:c.77261A>G (TTN)	XP_024308867.1:p.Glu25754Gly
XM_024453100.1:c.67115A>G (TTN)	XP_024308868.1:p.Glu22372Gly