Canonical Allele Identifier: CA349411508

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532105-A-C
• MyVariant Identifiers: chr2:g.179396832A>C (hg19) ; chr2:g.178532105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532105A>C , CM000664.2:g.178532105A>C	GRCh38
NC_000002.11:g.179396832A>C , CM000664.1:g.179396832A>C	GRCh37
NC_000002.10:g.179105078A>C	NCBI36
NG_011618.3:g.303698T>G , LRG_391:g.303698T>G
NG_051363.1:g.14279A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.96806T>G (TTN)	ENSP00000343764.6:p.Leu32269Arg
ENST00000342175.11:c.77891T>G (TTN)	ENSP00000340554.6:p.Leu25964Arg
ENST00000359218.10:c.77690T>G (TTN)	ENSP00000352154.5:p.Leu25897Arg
ENST00000342175.10:c.77891T>G (TTN)	ENSP00000340554.6:p.Leu25964Arg
ENST00000342992.10:c.96806T>G (TTN)	ENSP00000343764.6:p.Leu32269Arg
ENST00000359218.9:c.77690T>G (TTN)	ENSP00000352154.5:p.Leu25897Arg
ENST00000460472.6:c.77315T>G (TTN)	ENSP00000434586.1:p.Leu25772Arg
ENST00000589042.5:c.104510T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu34837Arg
ENST00000591111.5:c.99587T>G (TTN)	ENSP00000465570.1:p.Leu33196Arg
ENST00000615779.4:c.99587T>G (TTN)	ENSP00000483597.1:p.Leu33196Arg
NM_001256850.1:c.99587T>G (TTN)	NP_001243779.1:p.Leu33196Arg
NM_001267550.2:c.104510T>G (TTN) MANE Select	NP_001254479.2:p.Leu34837Arg
NM_003319.4:c.77315T>G (TTN)	NP_003310.4:p.Leu25772Arg
NM_133378.4:c.96806T>G (TTN)	NP_596869.4:p.Leu32269Arg
NM_133432.3:c.77690T>G (TTN)	NP_597676.3:p.Leu25897Arg
NM_133437.4:c.77891T>G (TTN)	NP_597681.4:p.Leu25964Arg
NR_038271.1:n.446+8469A>C (TTN-AS1)
NR_038272.1:n.220-3627A>C (TTN-AS1)
XM_011511729.1:c.103607T>G (TTN)	XP_011510031.1:p.Leu34536Arg
XM_011511730.1:c.77501T>G (TTN)	XP_011510032.1:p.Leu25834Arg
XM_011511731.1:c.77360T>G (TTN)	XP_011510033.1:p.Leu25787Arg
XM_017004819.1:c.103403T>G (TTN)	XP_016860308.1:p.Leu34468Arg
XM_017004820.1:c.98801T>G (TTN)	XP_016860309.1:p.Leu32934Arg
XM_017004821.1:c.98798T>G (TTN)	XP_016860310.1:p.Leu32933Arg
XM_017004822.1:c.95840T>G (TTN)	XP_016860311.1:p.Leu31947Arg
XM_017004823.1:c.77456T>G (TTN)	XP_016860312.1:p.Leu25819Arg
XM_024453094.1:c.98951T>G (TTN)	XP_024308862.1:p.Leu32984Arg
XM_024453095.1:c.98948T>G (TTN)	XP_024308863.1:p.Leu32983Arg
XM_024453096.1:c.98381T>G (TTN)	XP_024308864.1:p.Leu32794Arg
XM_024453097.1:c.95723T>G (TTN)	XP_024308865.1:p.Leu31908Arg
XM_024453098.1:c.95642T>G (TTN)	XP_024308866.1:p.Leu31881Arg
XM_024453099.1:c.77405T>G (TTN)	XP_024308867.1:p.Leu25802Arg
XM_024453100.1:c.67259T>G (TTN)	XP_024308868.1:p.Leu22420Arg