Canonical Allele Identifier: CA349504034

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1575512086
• MyVariant Identifiers: chr2:g.179416564C>T (hg19) ; chr2:g.178551837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551837C>T , CM000664.2:g.178551837C>T	GRCh38
NC_000002.11:g.179416564C>T , CM000664.1:g.179416564C>T	GRCh37
NC_000002.10:g.179124810C>T	NCBI36
NG_011618.3:g.283966G>A , LRG_391:g.283966G>A
NG_051363.1:g.34011C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83359G>A (TTN)	ENSP00000343764.6:p.Glu27787Lys
ENST00000342175.11:c.64444G>A (TTN)	ENSP00000340554.6:p.Glu21482Lys
ENST00000359218.10:c.64243G>A (TTN)	ENSP00000352154.5:p.Glu21415Lys
ENST00000342175.10:c.64444G>A (TTN)	ENSP00000340554.6:p.Glu21482Lys
ENST00000342992.10:c.83359G>A (TTN)	ENSP00000343764.6:p.Glu27787Lys
ENST00000359218.9:c.64243G>A (TTN)	ENSP00000352154.5:p.Glu21415Lys
ENST00000460472.6:c.63868G>A (TTN)	ENSP00000434586.1:p.Glu21290Lys
ENST00000589042.5:c.91063G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu30355Lys
ENST00000591111.5:c.86140G>A (TTN)	ENSP00000465570.1:p.Glu28714Lys
ENST00000615779.4:c.86140G>A (TTN)	ENSP00000483597.1:p.Glu28714Lys
NM_001256850.1:c.86140G>A (TTN)	NP_001243779.1:p.Glu28714Lys
NM_001267550.2:c.91063G>A (TTN) MANE Select	NP_001254479.2:p.Glu30355Lys
NM_003319.4:c.63868G>A (TTN)	NP_003310.4:p.Glu21290Lys
NM_133378.4:c.83359G>A (TTN)	NP_596869.4:p.Glu27787Lys
NM_133432.3:c.64243G>A (TTN)	NP_597676.3:p.Glu21415Lys
NM_133437.4:c.64444G>A (TTN)	NP_597681.4:p.Glu21482Lys
NR_038271.1:n.447-19463C>T (TTN-AS1)
NR_038272.1:n.2043+9476C>T (TTN-AS1)
XM_011511729.1:c.90160G>A (TTN)	XP_011510031.1:p.Glu30054Lys
XM_011511730.1:c.64054G>A (TTN)	XP_011510032.1:p.Glu21352Lys
XM_011511731.1:c.63913G>A (TTN)	XP_011510033.1:p.Glu21305Lys
XM_017004819.1:c.89956G>A (TTN)	XP_016860308.1:p.Glu29986Lys
XM_017004820.1:c.85354G>A (TTN)	XP_016860309.1:p.Glu28452Lys
XM_017004821.1:c.85351G>A (TTN)	XP_016860310.1:p.Glu28451Lys
XM_017004822.1:c.82393G>A (TTN)	XP_016860311.1:p.Glu27465Lys
XM_017004823.1:c.64009G>A (TTN)	XP_016860312.1:p.Glu21337Lys
XM_024453094.1:c.85504G>A (TTN)	XP_024308862.1:p.Glu28502Lys
XM_024453095.1:c.85501G>A (TTN)	XP_024308863.1:p.Glu28501Lys
XM_024453096.1:c.84934G>A (TTN)	XP_024308864.1:p.Glu28312Lys
XM_024453097.1:c.82276G>A (TTN)	XP_024308865.1:p.Glu27426Lys
XM_024453098.1:c.82195G>A (TTN)	XP_024308866.1:p.Glu27399Lys
XM_024453099.1:c.63958G>A (TTN)	XP_024308867.1:p.Glu21320Lys
XM_024453100.1:c.53812G>A (TTN)	XP_024308868.1:p.Glu17938Lys