Canonical Allele Identifier: CA430242537

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1159323
• ClinVar RCV Id: RCV001503001
• dbSNP Id: rs1242603048
• MyVariant Identifiers: chr2:g.179411607T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546880T>G , CM000664.2:g.178546880T>G	GRCh38
NC_000002.11:g.179411607T>G , CM000664.1:g.179411607T>G	GRCh37
NC_000002.10:g.179119853T>G	NCBI36
NG_011618.3:g.288923A>C , LRG_391:g.288923A>C
NG_051363.1:g.29054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86844A>C (TTN)	ENSP00000343764.6:p.Thr28948=
ENST00000342175.11:c.67929A>C (TTN)	ENSP00000340554.6:p.Thr22643=
ENST00000359218.10:c.67728A>C (TTN)	ENSP00000352154.5:p.Thr22576=
ENST00000342175.10:c.67929A>C (TTN)	ENSP00000340554.6:p.Thr22643=
ENST00000342992.10:c.86844A>C (TTN)	ENSP00000343764.6:p.Thr28948=
ENST00000359218.9:c.67728A>C (TTN)	ENSP00000352154.5:p.Thr22576=
ENST00000460472.6:c.67353A>C (TTN)	ENSP00000434586.1:p.Thr22451=
ENST00000589042.5:c.94548A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr31516=
ENST00000591111.5:c.89625A>C (TTN)	ENSP00000465570.1:p.Thr29875=
ENST00000615779.4:c.89625A>C (TTN)	ENSP00000483597.1:p.Thr29875=
NM_001256850.1:c.89625A>C (TTN)	NP_001243779.1:p.Thr29875=
NM_001267550.2:c.94548A>C (TTN) MANE Select	NP_001254479.2:p.Thr31516=
NM_003319.4:c.67353A>C (TTN)	NP_003310.4:p.Thr22451=
NM_133378.4:c.86844A>C (TTN)	NP_596869.4:p.Thr28948=
NM_133432.3:c.67728A>C (TTN)	NP_597676.3:p.Thr22576=
NM_133437.4:c.67929A>C (TTN)	NP_597681.4:p.Thr22643=
NR_038271.1:n.446+23244T>G (TTN-AS1)
NR_038272.1:n.2043+4519T>G (TTN-AS1)
XM_011511729.1:c.93645A>C (TTN)	XP_011510031.1:p.Thr31215=
XM_011511730.1:c.67539A>C (TTN)	XP_011510032.1:p.Thr22513=
XM_011511731.1:c.67398A>C (TTN)	XP_011510033.1:p.Thr22466=
XM_017004819.1:c.93441A>C (TTN)	XP_016860308.1:p.Thr31147=
XM_017004820.1:c.88839A>C (TTN)	XP_016860309.1:p.Thr29613=
XM_017004821.1:c.88836A>C (TTN)	XP_016860310.1:p.Thr29612=
XM_017004822.1:c.85878A>C (TTN)	XP_016860311.1:p.Thr28626=
XM_017004823.1:c.67494A>C (TTN)	XP_016860312.1:p.Thr22498=
XM_024453094.1:c.88989A>C (TTN)	XP_024308862.1:p.Thr29663=
XM_024453095.1:c.88986A>C (TTN)	XP_024308863.1:p.Thr29662=
XM_024453096.1:c.88419A>C (TTN)	XP_024308864.1:p.Thr29473=
XM_024453097.1:c.85761A>C (TTN)	XP_024308865.1:p.Thr28587=
XM_024453098.1:c.85680A>C (TTN)	XP_024308866.1:p.Thr28560=
XM_024453099.1:c.67443A>C (TTN)	XP_024308867.1:p.Thr22481=
XM_024453100.1:c.57297A>C (TTN)	XP_024308868.1:p.Thr19099=