Canonical Allele Identifier: CA349545398

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs948552885
• MyVariant Identifiers: chr2:g.179467077G>T (hg19) ; chr2:g.178602350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602350G>T , CM000664.2:g.178602350G>T	GRCh38
NC_000002.11:g.179467077G>T , CM000664.1:g.179467077G>T	GRCh37
NC_000002.10:g.179175322G>T	NCBI36
NG_011618.3:g.233453C>A , LRG_391:g.233453C>A
NG_051363.1:g.84524G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47348C>A (TTN)	ENSP00000343764.6:p.Ala15783Asp
ENST00000342175.11:c.28433C>A (TTN)	ENSP00000340554.6:p.Ala9478Asp
ENST00000359218.10:c.28232C>A (TTN)	ENSP00000352154.5:p.Ala9411Asp
ENST00000342175.10:c.28433C>A (TTN)	ENSP00000340554.6:p.Ala9478Asp
ENST00000342992.10:c.47348C>A (TTN)	ENSP00000343764.6:p.Ala15783Asp
ENST00000359218.9:c.28232C>A (TTN)	ENSP00000352154.5:p.Ala9411Asp
ENST00000460472.6:c.27857C>A (TTN)	ENSP00000434586.1:p.Ala9286Asp
ENST00000589042.5:c.55052C>A (TTN) MANE Select	ENSP00000467141.1:p.Ala18351Asp
ENST00000591111.5:c.50129C>A (TTN)	ENSP00000465570.1:p.Ala16710Asp
ENST00000615779.4:c.50129C>A (TTN)	ENSP00000483597.1:p.Ala16710Asp
NM_001256850.1:c.50129C>A (TTN)	NP_001243779.1:p.Ala16710Asp
NM_001267550.2:c.55052C>A (TTN) MANE Select	NP_001254479.2:p.Ala18351Asp
NM_003319.4:c.27857C>A (TTN)	NP_003310.4:p.Ala9286Asp
NM_133378.4:c.47348C>A (TTN)	NP_596869.4:p.Ala15783Asp
NM_133432.3:c.28232C>A (TTN)	NP_597676.3:p.Ala9411Asp
NM_133437.4:c.28433C>A (TTN)	NP_597681.4:p.Ala9478Asp
NR_038271.1:n.682+4669G>T (TTN-AS1)
NR_038272.1:n.3917+1683G>T (TTN-AS1)
XM_011511729.1:c.54149C>A (TTN)	XP_011510031.1:p.Ala18050Asp
XM_011511730.1:c.28043C>A (TTN)	XP_011510032.1:p.Ala9348Asp
XM_011511731.1:c.27902C>A (TTN)	XP_011510033.1:p.Ala9301Asp
XM_017004819.1:c.53945C>A (TTN)	XP_016860308.1:p.Ala17982Asp
XM_017004820.1:c.49343C>A (TTN)	XP_016860309.1:p.Ala16448Asp
XM_017004821.1:c.49340C>A (TTN)	XP_016860310.1:p.Ala16447Asp
XM_017004822.1:c.46382C>A (TTN)	XP_016860311.1:p.Ala15461Asp
XM_017004823.1:c.27998C>A (TTN)	XP_016860312.1:p.Ala9333Asp
XM_024453094.1:c.49493C>A (TTN)	XP_024308862.1:p.Ala16498Asp
XM_024453095.1:c.49490C>A (TTN)	XP_024308863.1:p.Ala16497Asp
XM_024453096.1:c.48923C>A (TTN)	XP_024308864.1:p.Ala16308Asp
XM_024453097.1:c.46265C>A (TTN)	XP_024308865.1:p.Ala15422Asp
XM_024453098.1:c.46184C>A (TTN)	XP_024308866.1:p.Ala15395Asp
XM_024453099.1:c.27947C>A (TTN)	XP_024308867.1:p.Ala9316Asp
XM_024453100.1:c.17801C>A (TTN)	XP_024308868.1:p.Ala5934Asp