Canonical Allele Identifier: CA1986834

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404800
• ClinVar RCV Id: RCV000475458 ; RCV000839289 ; RCV001130529 ; RCV001131256 ; RCV001131257 ; RCV001131258 ; RCV001131259 ; RCV003486846
• dbSNP Id: rs375368824
• ExAC: 2:179408930 A / C
• gnomAD v2: 2-179408930-A-C
• gnomAD v3: 2-178544203-A-C
• gnomAD v4: 2-178544203-A-C
• MyVariant Identifiers: chr2:g.179408930A>C (hg19) ; chr2:g.178544203A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544203A>C , CM000664.2:g.178544203A>C	GRCh38
NC_000002.11:g.179408930A>C , CM000664.1:g.179408930A>C	GRCh37
NC_000002.10:g.179117176A>C	NCBI36
NG_011618.3:g.291600T>G , LRG_391:g.291600T>G
NG_051363.1:g.26377A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88322T>G (TTN)	ENSP00000343764.6:p.Ile29441Arg
ENST00000342175.11:c.69407T>G (TTN)	ENSP00000340554.6:p.Ile23136Arg
ENST00000359218.10:c.69206T>G (TTN)	ENSP00000352154.5:p.Ile23069Arg
ENST00000342175.10:c.69407T>G (TTN)	ENSP00000340554.6:p.Ile23136Arg
ENST00000342992.10:c.88322T>G (TTN)	ENSP00000343764.6:p.Ile29441Arg
ENST00000359218.9:c.69206T>G (TTN)	ENSP00000352154.5:p.Ile23069Arg
ENST00000460472.6:c.68831T>G (TTN)	ENSP00000434586.1:p.Ile22944Arg
ENST00000589042.5:c.96026T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile32009Arg
ENST00000591111.5:c.91103T>G (TTN)	ENSP00000465570.1:p.Ile30368Arg
ENST00000615779.4:c.91103T>G (TTN)	ENSP00000483597.1:p.Ile30368Arg
NM_001256850.1:c.91103T>G (TTN)	NP_001243779.1:p.Ile30368Arg
NM_001267550.2:c.96026T>G (TTN) MANE Select	NP_001254479.2:p.Ile32009Arg
NM_003319.4:c.68831T>G (TTN)	NP_003310.4:p.Ile22944Arg
NM_133378.4:c.88322T>G (TTN)	NP_596869.4:p.Ile29441Arg
NM_133432.3:c.69206T>G (TTN)	NP_597676.3:p.Ile23069Arg
NM_133437.4:c.69407T>G (TTN)	NP_597681.4:p.Ile23136Arg
NR_038271.1:n.446+20567A>C (TTN-AS1)
NR_038272.1:n.2043+1842A>C (TTN-AS1)
XM_011511729.1:c.95123T>G (TTN)	XP_011510031.1:p.Ile31708Arg
XM_011511730.1:c.69017T>G (TTN)	XP_011510032.1:p.Ile23006Arg
XM_011511731.1:c.68876T>G (TTN)	XP_011510033.1:p.Ile22959Arg
XM_017004819.1:c.94919T>G (TTN)	XP_016860308.1:p.Ile31640Arg
XM_017004820.1:c.90317T>G (TTN)	XP_016860309.1:p.Ile30106Arg
XM_017004821.1:c.90314T>G (TTN)	XP_016860310.1:p.Ile30105Arg
XM_017004822.1:c.87356T>G (TTN)	XP_016860311.1:p.Ile29119Arg
XM_017004823.1:c.68972T>G (TTN)	XP_016860312.1:p.Ile22991Arg
XM_024453094.1:c.90467T>G (TTN)	XP_024308862.1:p.Ile30156Arg
XM_024453095.1:c.90464T>G (TTN)	XP_024308863.1:p.Ile30155Arg
XM_024453096.1:c.89897T>G (TTN)	XP_024308864.1:p.Ile29966Arg
XM_024453097.1:c.87239T>G (TTN)	XP_024308865.1:p.Ile29080Arg
XM_024453098.1:c.87158T>G (TTN)	XP_024308866.1:p.Ile29053Arg
XM_024453099.1:c.68921T>G (TTN)	XP_024308867.1:p.Ile22974Arg
XM_024453100.1:c.58775T>G (TTN)	XP_024308868.1:p.Ile19592Arg