Canonical Allele Identifier: CA349454350

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408828C>T (hg19) ; chr2:g.178544101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544101C>T , CM000664.2:g.178544101C>T	GRCh38
NC_000002.11:g.179408828C>T , CM000664.1:g.179408828C>T	GRCh37
NC_000002.10:g.179117074C>T	NCBI36
NG_011618.3:g.291702G>A , LRG_391:g.291702G>A
NG_051363.1:g.26275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88339G>A (TTN)	ENSP00000343764.6:p.Glu29447Lys
ENST00000342175.11:c.69424G>A (TTN)	ENSP00000340554.6:p.Glu23142Lys
ENST00000359218.10:c.69223G>A (TTN)	ENSP00000352154.5:p.Glu23075Lys
ENST00000342175.10:c.69424G>A (TTN)	ENSP00000340554.6:p.Glu23142Lys
ENST00000342992.10:c.88339G>A (TTN)	ENSP00000343764.6:p.Glu29447Lys
ENST00000359218.9:c.69223G>A (TTN)	ENSP00000352154.5:p.Glu23075Lys
ENST00000460472.6:c.68848G>A (TTN)	ENSP00000434586.1:p.Glu22950Lys
ENST00000589042.5:c.96043G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu32015Lys
ENST00000591111.5:c.91120G>A (TTN)	ENSP00000465570.1:p.Glu30374Lys
ENST00000615779.4:c.91120G>A (TTN)	ENSP00000483597.1:p.Glu30374Lys
NM_001256850.1:c.91120G>A (TTN)	NP_001243779.1:p.Glu30374Lys
NM_001267550.2:c.96043G>A (TTN) MANE Select	NP_001254479.2:p.Glu32015Lys
NM_003319.4:c.68848G>A (TTN)	NP_003310.4:p.Glu22950Lys
NM_133378.4:c.88339G>A (TTN)	NP_596869.4:p.Glu29447Lys
NM_133432.3:c.69223G>A (TTN)	NP_597676.3:p.Glu23075Lys
NM_133437.4:c.69424G>A (TTN)	NP_597681.4:p.Glu23142Lys
NR_038271.1:n.446+20465C>T (TTN-AS1)
NR_038272.1:n.2043+1740C>T (TTN-AS1)
XM_011511729.1:c.95140G>A (TTN)	XP_011510031.1:p.Glu31714Lys
XM_011511730.1:c.69034G>A (TTN)	XP_011510032.1:p.Glu23012Lys
XM_011511731.1:c.68893G>A (TTN)	XP_011510033.1:p.Glu22965Lys
XM_017004819.1:c.94936G>A (TTN)	XP_016860308.1:p.Glu31646Lys
XM_017004820.1:c.90334G>A (TTN)	XP_016860309.1:p.Glu30112Lys
XM_017004821.1:c.90331G>A (TTN)	XP_016860310.1:p.Glu30111Lys
XM_017004822.1:c.87373G>A (TTN)	XP_016860311.1:p.Glu29125Lys
XM_017004823.1:c.68989G>A (TTN)	XP_016860312.1:p.Glu22997Lys
XM_024453094.1:c.90484G>A (TTN)	XP_024308862.1:p.Glu30162Lys
XM_024453095.1:c.90481G>A (TTN)	XP_024308863.1:p.Glu30161Lys
XM_024453096.1:c.89914G>A (TTN)	XP_024308864.1:p.Glu29972Lys
XM_024453097.1:c.87256G>A (TTN)	XP_024308865.1:p.Glu29086Lys
XM_024453098.1:c.87175G>A (TTN)	XP_024308866.1:p.Glu29059Lys
XM_024453099.1:c.68938G>A (TTN)	XP_024308867.1:p.Glu22980Lys
XM_024453100.1:c.58792G>A (TTN)	XP_024308868.1:p.Glu19598Lys