Canonical Allele Identifier: CA261860

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47003
• ClinVar RCV Id: RCV000040273
• dbSNP Id: rs397517586
• MyVariant Identifiers: chr2:g.179483504A>T (hg19) ; chr2:g.178618777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618777A>T , CM000664.2:g.178618777A>T	GRCh38
NC_000002.11:g.179483504A>T , CM000664.1:g.179483504A>T	GRCh37
NC_000002.10:g.179191749A>T	NCBI36
NG_011618.3:g.217026T>A , LRG_391:g.217026T>A
NG_051363.1:g.100951A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39069T>A (TTN)	ENSP00000343764.6:p.Tyr13023Ter
ENST00000342175.11:c.20154T>A (TTN)	ENSP00000340554.6:p.Tyr6718Ter
ENST00000359218.10:c.19953T>A (TTN)	ENSP00000352154.5:p.Tyr6651Ter
ENST00000342175.10:c.20154T>A (TTN)	ENSP00000340554.6:p.Tyr6718Ter
ENST00000342992.10:c.39069T>A (TTN)	ENSP00000343764.6:p.Tyr13023Ter
ENST00000359218.9:c.19953T>A (TTN)	ENSP00000352154.5:p.Tyr6651Ter
ENST00000460472.6:c.19578T>A (TTN)	ENSP00000434586.1:p.Tyr6526Ter
ENST00000589042.5:c.46773T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr15591Ter
ENST00000591111.5:c.41850T>A (TTN)	ENSP00000465570.1:p.Tyr13950Ter
ENST00000615779.4:c.41850T>A (TTN)	ENSP00000483597.1:p.Tyr13950Ter
NM_001256850.1:c.41850T>A (TTN)	NP_001243779.1:p.Tyr13950Ter
NM_001267550.2:c.46773T>A (TTN) MANE Select	NP_001254479.2:p.Tyr15591Ter
NM_003319.4:c.19578T>A (TTN)	NP_003310.4:p.Tyr6526Ter
NM_133378.4:c.39069T>A (TTN)	NP_596869.4:p.Tyr13023Ter
NM_133432.3:c.19953T>A (TTN)	NP_597676.3:p.Tyr6651Ter
NM_133437.4:c.20154T>A (TTN)	NP_597681.4:p.Tyr6718Ter
NR_038271.1:n.1605-976A>T (TTN-AS1)
XM_011511729.1:c.45870T>A (TTN)	XP_011510031.1:p.Tyr15290Ter
XM_011511730.1:c.19764T>A (TTN)	XP_011510032.1:p.Tyr6588Ter
XM_011511731.1:c.19623T>A (TTN)	XP_011510033.1:p.Tyr6541Ter
XM_017004819.1:c.45666T>A (TTN)	XP_016860308.1:p.Tyr15222Ter
XM_017004820.1:c.41064T>A (TTN)	XP_016860309.1:p.Tyr13688Ter
XM_017004821.1:c.41061T>A (TTN)	XP_016860310.1:p.Tyr13687Ter
XM_017004822.1:c.38103T>A (TTN)	XP_016860311.1:p.Tyr12701Ter
XM_017004823.1:c.19719T>A (TTN)	XP_016860312.1:p.Tyr6573Ter
XM_024453094.1:c.41214T>A (TTN)	XP_024308862.1:p.Tyr13738Ter
XM_024453095.1:c.41211T>A (TTN)	XP_024308863.1:p.Tyr13737Ter
XM_024453096.1:c.40644T>A (TTN)	XP_024308864.1:p.Tyr13548Ter
XM_024453097.1:c.37986T>A (TTN)	XP_024308865.1:p.Tyr12662Ter
XM_024453098.1:c.37905T>A (TTN)	XP_024308866.1:p.Tyr12635Ter
XM_024453099.1:c.19668T>A (TTN)	XP_024308867.1:p.Tyr6556Ter
XM_024453100.1:c.9522T>A (TTN)	XP_024308868.1:p.Tyr3174Ter