Canonical Allele Identifier: CA302859

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 195843
• ClinVar RCV Id: RCV000176513 ; RCV000218113 ; RCV000245462 ; RCV000537285 ; RCV001132557 ; RCV001132558 ; RCV001132559 ; RCV001132560 ; RCV001133469
• dbSNP Id: rs191927501
• ExAC: 2:179458757 C / T
• gnomAD v2: 2-179458757-C-T
• gnomAD v3: 2-178594030-C-T
• gnomAD v4: 2-178594030-C-T
• COSMIC: COSM3990825 ; COSM3990826 ; COSM3990827 ; COSM3990828
• MyVariant Identifiers: chr2:g.179458757C>T (hg19) ; chr2:g.178594030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594030C>T , CM000664.2:g.178594030C>T	GRCh38
NC_000002.11:g.179458757C>T , CM000664.1:g.179458757C>T	GRCh37
NC_000002.10:g.179167003C>T	NCBI36
NG_011618.3:g.241773G>A , LRG_391:g.241773G>A
NG_051363.1:g.76204C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.50659G>A (TTN)	ENSP00000343764.6:p.Gly16887Ser
ENST00000342175.11:c.31744G>A (TTN)	ENSP00000340554.6:p.Gly10582Ser
ENST00000359218.10:c.31543G>A (TTN)	ENSP00000352154.5:p.Gly10515Ser
ENST00000342175.10:c.31744G>A (TTN)	ENSP00000340554.6:p.Gly10582Ser
ENST00000342992.10:c.50659G>A (TTN)	ENSP00000343764.6:p.Gly16887Ser
ENST00000359218.9:c.31543G>A (TTN)	ENSP00000352154.5:p.Gly10515Ser
ENST00000460472.6:c.31168G>A (TTN)	ENSP00000434586.1:p.Gly10390Ser
ENST00000589042.5:c.58363G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly19455Ser
ENST00000591111.5:c.53440G>A (TTN)	ENSP00000465570.1:p.Gly17814Ser
ENST00000615779.4:c.53440G>A (TTN)	ENSP00000483597.1:p.Gly17814Ser
NM_001256850.1:c.53440G>A (TTN)	NP_001243779.1:p.Gly17814Ser
NM_001267550.2:c.58363G>A (TTN) MANE Select	NP_001254479.2:p.Gly19455Ser
NM_003319.4:c.31168G>A (TTN)	NP_003310.4:p.Gly10390Ser
NM_133378.4:c.50659G>A (TTN)	NP_596869.4:p.Gly16887Ser
NM_133432.3:c.31543G>A (TTN)	NP_597676.3:p.Gly10515Ser
NM_133437.4:c.31744G>A (TTN)	NP_597681.4:p.Gly10582Ser
NR_038271.1:n.597-3566C>T (TTN-AS1)
NR_038272.1:n.3364+2716C>T (TTN-AS1)
XM_011511729.1:c.57460G>A (TTN)	XP_011510031.1:p.Gly19154Ser
XM_011511730.1:c.31354G>A (TTN)	XP_011510032.1:p.Gly10452Ser
XM_011511731.1:c.31213G>A (TTN)	XP_011510033.1:p.Gly10405Ser
XM_017004819.1:c.57256G>A (TTN)	XP_016860308.1:p.Gly19086Ser
XM_017004820.1:c.52654G>A (TTN)	XP_016860309.1:p.Gly17552Ser
XM_017004821.1:c.52651G>A (TTN)	XP_016860310.1:p.Gly17551Ser
XM_017004822.1:c.49693G>A (TTN)	XP_016860311.1:p.Gly16565Ser
XM_017004823.1:c.31309G>A (TTN)	XP_016860312.1:p.Gly10437Ser
XM_024453094.1:c.52804G>A (TTN)	XP_024308862.1:p.Gly17602Ser
XM_024453095.1:c.52801G>A (TTN)	XP_024308863.1:p.Gly17601Ser
XM_024453096.1:c.52234G>A (TTN)	XP_024308864.1:p.Gly17412Ser
XM_024453097.1:c.49576G>A (TTN)	XP_024308865.1:p.Gly16526Ser
XM_024453098.1:c.49495G>A (TTN)	XP_024308866.1:p.Gly16499Ser
XM_024453099.1:c.31258G>A (TTN)	XP_024308867.1:p.Gly10420Ser
XM_024453100.1:c.21112G>A (TTN)	XP_024308868.1:p.Gly7038Ser