Canonical Allele Identifier: CA1991384

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1177267
• ClinVar RCV Id: RCV001532932 ; RCV002501868 ; RCV003136100
• dbSNP Id: rs764048936
• ExAC: 2:179445055 C / A
• gnomAD v2: 2-179445055-C-A
• gnomAD v3: 2-178580328-C-A
• gnomAD v4: 2-178580328-C-A
• MyVariant Identifiers: chr2:g.179445055C>A (hg19) ; chr2:g.178580328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178580328C>A , CM000664.2:g.178580328C>A	GRCh38
NC_000002.11:g.179445055C>A , CM000664.1:g.179445055C>A	GRCh37
NC_000002.10:g.179153301C>A	NCBI36
NG_011618.3:g.255475G>T , LRG_391:g.255475G>T
NG_051363.1:g.62502C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59347G>T (TTN)	ENSP00000343764.6:p.Val19783Leu
ENST00000342175.11:c.40432G>T (TTN)	ENSP00000340554.6:p.Val13478Leu
ENST00000359218.10:c.40231G>T (TTN)	ENSP00000352154.5:p.Val13411Leu
ENST00000342175.10:c.40432G>T (TTN)	ENSP00000340554.6:p.Val13478Leu
ENST00000342992.10:c.59347G>T (TTN)	ENSP00000343764.6:p.Val19783Leu
ENST00000359218.9:c.40231G>T (TTN)	ENSP00000352154.5:p.Val13411Leu
ENST00000460472.6:c.39856G>T (TTN)	ENSP00000434586.1:p.Val13286Leu
ENST00000589042.5:c.67051G>T (TTN) MANE Select	ENSP00000467141.1:p.Val22351Leu
ENST00000591111.5:c.62128G>T (TTN)	ENSP00000465570.1:p.Val20710Leu
ENST00000615779.4:c.62128G>T (TTN)	ENSP00000483597.1:p.Val20710Leu
NM_001256850.1:c.62128G>T (TTN)	NP_001243779.1:p.Val20710Leu
NM_001267550.2:c.67051G>T (TTN) MANE Select	NP_001254479.2:p.Val22351Leu
NM_003319.4:c.39856G>T (TTN)	NP_003310.4:p.Val13286Leu
NM_133378.4:c.59347G>T (TTN)	NP_596869.4:p.Val19783Leu
NM_133432.3:c.40231G>T (TTN)	NP_597676.3:p.Val13411Leu
NM_133437.4:c.40432G>T (TTN)	NP_597681.4:p.Val13478Leu
NR_038271.1:n.596+8879C>A (TTN-AS1)
NR_038272.1:n.2044-2244C>A (TTN-AS1)
XM_011511729.1:c.66148G>T (TTN)	XP_011510031.1:p.Val22050Leu
XM_011511730.1:c.40042G>T (TTN)	XP_011510032.1:p.Val13348Leu
XM_011511731.1:c.39901G>T (TTN)	XP_011510033.1:p.Val13301Leu
XM_017004819.1:c.65944G>T (TTN)	XP_016860308.1:p.Val21982Leu
XM_017004820.1:c.61342G>T (TTN)	XP_016860309.1:p.Val20448Leu
XM_017004821.1:c.61339G>T (TTN)	XP_016860310.1:p.Val20447Leu
XM_017004822.1:c.58381G>T (TTN)	XP_016860311.1:p.Val19461Leu
XM_017004823.1:c.39997G>T (TTN)	XP_016860312.1:p.Val13333Leu
XM_024453094.1:c.61492G>T (TTN)	XP_024308862.1:p.Val20498Leu
XM_024453095.1:c.61489G>T (TTN)	XP_024308863.1:p.Val20497Leu
XM_024453096.1:c.60922G>T (TTN)	XP_024308864.1:p.Val20308Leu
XM_024453097.1:c.58264G>T (TTN)	XP_024308865.1:p.Val19422Leu
XM_024453098.1:c.58183G>T (TTN)	XP_024308866.1:p.Val19395Leu
XM_024453099.1:c.39946G>T (TTN)	XP_024308867.1:p.Val13316Leu
XM_024453100.1:c.29800G>T (TTN)	XP_024308868.1:p.Val9934Leu