Canonical Allele Identifier: CA1994612

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1787833
• ClinVar RCV Id: RCV002425926
• dbSNP Id: rs376498195
• ExAC: 2:179478652 G / A
• gnomAD v2: 2-179478652-G-A
• gnomAD v3: 2-178613925-G-A
• gnomAD v4: 2-178613925-G-A
• MyVariant Identifiers: chr2:g.179478652G>A (hg19) ; chr2:g.178613925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613925G>A , CM000664.2:g.178613925G>A	GRCh38
NC_000002.11:g.179478652G>A , CM000664.1:g.179478652G>A	GRCh37
NC_000002.10:g.179186897G>A	NCBI36
NG_011618.3:g.221878C>T , LRG_391:g.221878C>T
NG_051363.1:g.96099G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41654C>T (TTN)	ENSP00000343764.6:p.Pro13885Leu
ENST00000342175.11:c.22739C>T (TTN)	ENSP00000340554.6:p.Pro7580Leu
ENST00000359218.10:c.22538C>T (TTN)	ENSP00000352154.5:p.Pro7513Leu
ENST00000342175.10:c.22739C>T (TTN)	ENSP00000340554.6:p.Pro7580Leu
ENST00000342992.10:c.41654C>T (TTN)	ENSP00000343764.6:p.Pro13885Leu
ENST00000359218.9:c.22538C>T (TTN)	ENSP00000352154.5:p.Pro7513Leu
ENST00000460472.6:c.22163C>T (TTN)	ENSP00000434586.1:p.Pro7388Leu
ENST00000589042.5:c.49358C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro16453Leu
ENST00000591111.5:c.44435C>T (TTN)	ENSP00000465570.1:p.Pro14812Leu
ENST00000615779.4:c.44435C>T (TTN)	ENSP00000483597.1:p.Pro14812Leu
NM_001256850.1:c.44435C>T (TTN)	NP_001243779.1:p.Pro14812Leu
NM_001267550.2:c.49358C>T (TTN) MANE Select	NP_001254479.2:p.Pro16453Leu
NM_003319.4:c.22163C>T (TTN)	NP_003310.4:p.Pro7388Leu
NM_133378.4:c.41654C>T (TTN)	NP_596869.4:p.Pro13885Leu
NM_133432.3:c.22538C>T (TTN)	NP_597676.3:p.Pro7513Leu
NM_133437.4:c.22739C>T (TTN)	NP_597681.4:p.Pro7580Leu
NR_038271.1:n.783-110G>A (TTN-AS1)
XM_011511729.1:c.48455C>T (TTN)	XP_011510031.1:p.Pro16152Leu
XM_011511730.1:c.22349C>T (TTN)	XP_011510032.1:p.Pro7450Leu
XM_011511731.1:c.22208C>T (TTN)	XP_011510033.1:p.Pro7403Leu
XM_017004819.1:c.48251C>T (TTN)	XP_016860308.1:p.Pro16084Leu
XM_017004820.1:c.43649C>T (TTN)	XP_016860309.1:p.Pro14550Leu
XM_017004821.1:c.43646C>T (TTN)	XP_016860310.1:p.Pro14549Leu
XM_017004822.1:c.40688C>T (TTN)	XP_016860311.1:p.Pro13563Leu
XM_017004823.1:c.22304C>T (TTN)	XP_016860312.1:p.Pro7435Leu
XM_024453094.1:c.43799C>T (TTN)	XP_024308862.1:p.Pro14600Leu
XM_024453095.1:c.43796C>T (TTN)	XP_024308863.1:p.Pro14599Leu
XM_024453096.1:c.43229C>T (TTN)	XP_024308864.1:p.Pro14410Leu
XM_024453097.1:c.40571C>T (TTN)	XP_024308865.1:p.Pro13524Leu
XM_024453098.1:c.40490C>T (TTN)	XP_024308866.1:p.Pro13497Leu
XM_024453099.1:c.22253C>T (TTN)	XP_024308867.1:p.Pro7418Leu
XM_024453100.1:c.12107C>T (TTN)	XP_024308868.1:p.Pro4036Leu