Canonical Allele Identifier: CA349450473

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408587G>A (hg19) ; chr2:g.178543860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543860G>A , CM000664.2:g.178543860G>A	GRCh38
NC_000002.11:g.179408587G>A , CM000664.1:g.179408587G>A	GRCh37
NC_000002.10:g.179116833G>A	NCBI36
NG_011618.3:g.291943C>T , LRG_391:g.291943C>T
NG_051363.1:g.26034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88580C>T (TTN)	ENSP00000343764.6:p.Ser29527Leu
ENST00000342175.11:c.69665C>T (TTN)	ENSP00000340554.6:p.Ser23222Leu
ENST00000359218.10:c.69464C>T (TTN)	ENSP00000352154.5:p.Ser23155Leu
ENST00000342175.10:c.69665C>T (TTN)	ENSP00000340554.6:p.Ser23222Leu
ENST00000342992.10:c.88580C>T (TTN)	ENSP00000343764.6:p.Ser29527Leu
ENST00000359218.9:c.69464C>T (TTN)	ENSP00000352154.5:p.Ser23155Leu
ENST00000460472.6:c.69089C>T (TTN)	ENSP00000434586.1:p.Ser23030Leu
ENST00000589042.5:c.96284C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser32095Leu
ENST00000591111.5:c.91361C>T (TTN)	ENSP00000465570.1:p.Ser30454Leu
ENST00000615779.4:c.91361C>T (TTN)	ENSP00000483597.1:p.Ser30454Leu
NM_001256850.1:c.91361C>T (TTN)	NP_001243779.1:p.Ser30454Leu
NM_001267550.2:c.96284C>T (TTN) MANE Select	NP_001254479.2:p.Ser32095Leu
NM_003319.4:c.69089C>T (TTN)	NP_003310.4:p.Ser23030Leu
NM_133378.4:c.88580C>T (TTN)	NP_596869.4:p.Ser29527Leu
NM_133432.3:c.69464C>T (TTN)	NP_597676.3:p.Ser23155Leu
NM_133437.4:c.69665C>T (TTN)	NP_597681.4:p.Ser23222Leu
NR_038271.1:n.446+20224G>A (TTN-AS1)
NR_038272.1:n.2043+1499G>A (TTN-AS1)
XM_011511729.1:c.95381C>T (TTN)	XP_011510031.1:p.Ser31794Leu
XM_011511730.1:c.69275C>T (TTN)	XP_011510032.1:p.Ser23092Leu
XM_011511731.1:c.69134C>T (TTN)	XP_011510033.1:p.Ser23045Leu
XM_017004819.1:c.95177C>T (TTN)	XP_016860308.1:p.Ser31726Leu
XM_017004820.1:c.90575C>T (TTN)	XP_016860309.1:p.Ser30192Leu
XM_017004821.1:c.90572C>T (TTN)	XP_016860310.1:p.Ser30191Leu
XM_017004822.1:c.87614C>T (TTN)	XP_016860311.1:p.Ser29205Leu
XM_017004823.1:c.69230C>T (TTN)	XP_016860312.1:p.Ser23077Leu
XM_024453094.1:c.90725C>T (TTN)	XP_024308862.1:p.Ser30242Leu
XM_024453095.1:c.90722C>T (TTN)	XP_024308863.1:p.Ser30241Leu
XM_024453096.1:c.90155C>T (TTN)	XP_024308864.1:p.Ser30052Leu
XM_024453097.1:c.87497C>T (TTN)	XP_024308865.1:p.Ser29166Leu
XM_024453098.1:c.87416C>T (TTN)	XP_024308866.1:p.Ser29139Leu
XM_024453099.1:c.69179C>T (TTN)	XP_024308867.1:p.Ser23060Leu
XM_024453100.1:c.59033C>T (TTN)	XP_024308868.1:p.Ser19678Leu