Canonical Allele Identifier: CA1987790

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs758618786
• ExAC: 2:179417190 C / T
• gnomAD v2: 2-179417190-C-T
• MyVariant Identifiers: chr2:g.179417190C>T (hg19) ; chr2:g.178552463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552463C>T , CM000664.2:g.178552463C>T	GRCh38
NC_000002.11:g.179417190C>T , CM000664.1:g.179417190C>T	GRCh37
NC_000002.10:g.179125436C>T	NCBI36
NG_011618.3:g.283340G>A , LRG_391:g.283340G>A
NG_051363.1:g.34637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82733G>A (TTN)	ENSP00000343764.6:p.Gly27578Glu
ENST00000342175.11:c.63818G>A (TTN)	ENSP00000340554.6:p.Gly21273Glu
ENST00000359218.10:c.63617G>A (TTN)	ENSP00000352154.5:p.Gly21206Glu
ENST00000342175.10:c.63818G>A (TTN)	ENSP00000340554.6:p.Gly21273Glu
ENST00000342992.10:c.82733G>A (TTN)	ENSP00000343764.6:p.Gly27578Glu
ENST00000359218.9:c.63617G>A (TTN)	ENSP00000352154.5:p.Gly21206Glu
ENST00000460472.6:c.63242G>A (TTN)	ENSP00000434586.1:p.Gly21081Glu
ENST00000589042.5:c.90437G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30146Glu
ENST00000591111.5:c.85514G>A (TTN)	ENSP00000465570.1:p.Gly28505Glu
ENST00000615779.4:c.85514G>A (TTN)	ENSP00000483597.1:p.Gly28505Glu
NM_001256850.1:c.85514G>A (TTN)	NP_001243779.1:p.Gly28505Glu
NM_001267550.2:c.90437G>A (TTN) MANE Select	NP_001254479.2:p.Gly30146Glu
NM_003319.4:c.63242G>A (TTN)	NP_003310.4:p.Gly21081Glu
NM_133378.4:c.82733G>A (TTN)	NP_596869.4:p.Gly27578Glu
NM_133432.3:c.63617G>A (TTN)	NP_597676.3:p.Gly21206Glu
NM_133437.4:c.63818G>A (TTN)	NP_597681.4:p.Gly21273Glu
NR_038271.1:n.447-18837C>T (TTN-AS1)
NR_038272.1:n.2043+10102C>T (TTN-AS1)
XM_011511729.1:c.89534G>A (TTN)	XP_011510031.1:p.Gly29845Glu
XM_011511730.1:c.63428G>A (TTN)	XP_011510032.1:p.Gly21143Glu
XM_011511731.1:c.63287G>A (TTN)	XP_011510033.1:p.Gly21096Glu
XM_017004819.1:c.89330G>A (TTN)	XP_016860308.1:p.Gly29777Glu
XM_017004820.1:c.84728G>A (TTN)	XP_016860309.1:p.Gly28243Glu
XM_017004821.1:c.84725G>A (TTN)	XP_016860310.1:p.Gly28242Glu
XM_017004822.1:c.81767G>A (TTN)	XP_016860311.1:p.Gly27256Glu
XM_017004823.1:c.63383G>A (TTN)	XP_016860312.1:p.Gly21128Glu
XM_024453094.1:c.84878G>A (TTN)	XP_024308862.1:p.Gly28293Glu
XM_024453095.1:c.84875G>A (TTN)	XP_024308863.1:p.Gly28292Glu
XM_024453096.1:c.84308G>A (TTN)	XP_024308864.1:p.Gly28103Glu
XM_024453097.1:c.81650G>A (TTN)	XP_024308865.1:p.Gly27217Glu
XM_024453098.1:c.81569G>A (TTN)	XP_024308866.1:p.Gly27190Glu
XM_024453099.1:c.63332G>A (TTN)	XP_024308867.1:p.Gly21111Glu
XM_024453100.1:c.53186G>A (TTN)	XP_024308868.1:p.Gly17729Glu