Canonical Allele Identifier: CA349618084

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM4136668 ; COSM4136669 ; COSM4136670 ; COSM4136671
• MyVariant Identifiers: chr2:g.179482772T>A (hg19) ; chr2:g.178618045T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618045T>A , CM000664.2:g.178618045T>A	GRCh38
NC_000002.11:g.179482772T>A , CM000664.1:g.179482772T>A	GRCh37
NC_000002.10:g.179191017T>A	NCBI36
NG_011618.3:g.217758A>T , LRG_391:g.217758A>T
NG_051363.1:g.100219T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39602A>T (TTN)	ENSP00000343764.6:p.Asp13201Val
ENST00000342175.11:c.20687A>T (TTN)	ENSP00000340554.6:p.Asp6896Val
ENST00000359218.10:c.20486A>T (TTN)	ENSP00000352154.5:p.Asp6829Val
ENST00000342175.10:c.20687A>T (TTN)	ENSP00000340554.6:p.Asp6896Val
ENST00000342992.10:c.39602A>T (TTN)	ENSP00000343764.6:p.Asp13201Val
ENST00000359218.9:c.20486A>T (TTN)	ENSP00000352154.5:p.Asp6829Val
ENST00000460472.6:c.20111A>T (TTN)	ENSP00000434586.1:p.Asp6704Val
ENST00000589042.5:c.47306A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp15769Val
ENST00000591111.5:c.42383A>T (TTN)	ENSP00000465570.1:p.Asp14128Val
ENST00000615779.4:c.42383A>T (TTN)	ENSP00000483597.1:p.Asp14128Val
NM_001256850.1:c.42383A>T (TTN)	NP_001243779.1:p.Asp14128Val
NM_001267550.2:c.47306A>T (TTN) MANE Select	NP_001254479.2:p.Asp15769Val
NM_003319.4:c.20111A>T (TTN)	NP_003310.4:p.Asp6704Val
NM_133378.4:c.39602A>T (TTN)	NP_596869.4:p.Asp13201Val
NM_133432.3:c.20486A>T (TTN)	NP_597676.3:p.Asp6829Val
NM_133437.4:c.20687A>T (TTN)	NP_597681.4:p.Asp6896Val
NR_038271.1:n.1605-1708T>A (TTN-AS1)
XM_011511729.1:c.46403A>T (TTN)	XP_011510031.1:p.Asp15468Val
XM_011511730.1:c.20297A>T (TTN)	XP_011510032.1:p.Asp6766Val
XM_011511731.1:c.20156A>T (TTN)	XP_011510033.1:p.Asp6719Val
XM_017004819.1:c.46199A>T (TTN)	XP_016860308.1:p.Asp15400Val
XM_017004820.1:c.41597A>T (TTN)	XP_016860309.1:p.Asp13866Val
XM_017004821.1:c.41594A>T (TTN)	XP_016860310.1:p.Asp13865Val
XM_017004822.1:c.38636A>T (TTN)	XP_016860311.1:p.Asp12879Val
XM_017004823.1:c.20252A>T (TTN)	XP_016860312.1:p.Asp6751Val
XM_024453094.1:c.41747A>T (TTN)	XP_024308862.1:p.Asp13916Val
XM_024453095.1:c.41744A>T (TTN)	XP_024308863.1:p.Asp13915Val
XM_024453096.1:c.41177A>T (TTN)	XP_024308864.1:p.Asp13726Val
XM_024453097.1:c.38519A>T (TTN)	XP_024308865.1:p.Asp12840Val
XM_024453098.1:c.38438A>T (TTN)	XP_024308866.1:p.Asp12813Val
XM_024453099.1:c.20201A>T (TTN)	XP_024308867.1:p.Asp6734Val
XM_024453100.1:c.10055A>T (TTN)	XP_024308868.1:p.Asp3352Val