Canonical Allele Identifier: CA16617346

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 419658
• ClinVar RCV Id: RCV000479175 ; RCV001220393
• dbSNP Id: rs1064794023
• MyVariant Identifiers: chr2:g.179431066A>C (hg19) ; chr2:g.178566339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566339A>C , CM000664.2:g.178566339A>C	GRCh38
NC_000002.11:g.179431066A>C , CM000664.1:g.179431066A>C	GRCh37
NC_000002.10:g.179139312A>C	NCBI36
NG_011618.3:g.269464T>G , LRG_391:g.269464T>G
NG_051363.1:g.48513A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72089T>G (TTN)	ENSP00000343764.6:p.Leu24030Ter
ENST00000342175.11:c.53174T>G (TTN)	ENSP00000340554.6:p.Leu17725Ter
ENST00000359218.10:c.52973T>G (TTN)	ENSP00000352154.5:p.Leu17658Ter
ENST00000342175.10:c.53174T>G (TTN)	ENSP00000340554.6:p.Leu17725Ter
ENST00000342992.10:c.72089T>G (TTN)	ENSP00000343764.6:p.Leu24030Ter
ENST00000359218.9:c.52973T>G (TTN)	ENSP00000352154.5:p.Leu17658Ter
ENST00000460472.6:c.52598T>G (TTN)	ENSP00000434586.1:p.Leu17533Ter
ENST00000589042.5:c.79793T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu26598Ter
ENST00000591111.5:c.74870T>G (TTN)	ENSP00000465570.1:p.Leu24957Ter
ENST00000615779.4:c.74870T>G (TTN)	ENSP00000483597.1:p.Leu24957Ter
NM_001256850.1:c.74870T>G (TTN)	NP_001243779.1:p.Leu24957Ter
NM_001267550.2:c.79793T>G (TTN) MANE Select	NP_001254479.2:p.Leu26598Ter
NM_003319.4:c.52598T>G (TTN)	NP_003310.4:p.Leu17533Ter
NM_133378.4:c.72089T>G (TTN)	NP_596869.4:p.Leu24030Ter
NM_133432.3:c.52973T>G (TTN)	NP_597676.3:p.Leu17658Ter
NM_133437.4:c.53174T>G (TTN)	NP_597681.4:p.Leu17725Ter
NR_038271.1:n.447-4961A>C (TTN-AS1)
NR_038272.1:n.2044-16233A>C (TTN-AS1)
XM_011511729.1:c.78890T>G (TTN)	XP_011510031.1:p.Leu26297Ter
XM_011511730.1:c.52784T>G (TTN)	XP_011510032.1:p.Leu17595Ter
XM_011511731.1:c.52643T>G (TTN)	XP_011510033.1:p.Leu17548Ter
XM_017004819.1:c.78686T>G (TTN)	XP_016860308.1:p.Leu26229Ter
XM_017004820.1:c.74084T>G (TTN)	XP_016860309.1:p.Leu24695Ter
XM_017004821.1:c.74081T>G (TTN)	XP_016860310.1:p.Leu24694Ter
XM_017004822.1:c.71123T>G (TTN)	XP_016860311.1:p.Leu23708Ter
XM_017004823.1:c.52739T>G (TTN)	XP_016860312.1:p.Leu17580Ter
XM_024453094.1:c.74234T>G (TTN)	XP_024308862.1:p.Leu24745Ter
XM_024453095.1:c.74231T>G (TTN)	XP_024308863.1:p.Leu24744Ter
XM_024453096.1:c.73664T>G (TTN)	XP_024308864.1:p.Leu24555Ter
XM_024453097.1:c.71006T>G (TTN)	XP_024308865.1:p.Leu23669Ter
XM_024453098.1:c.70925T>G (TTN)	XP_024308866.1:p.Leu23642Ter
XM_024453099.1:c.52688T>G (TTN)	XP_024308867.1:p.Leu17563Ter
XM_024453100.1:c.42542T>G (TTN)	XP_024308868.1:p.Leu14181Ter