Canonical Allele Identifier: CA349512631

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417391T>A (hg19) ; chr2:g.178552664T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552664T>A , CM000664.2:g.178552664T>A	GRCh38
NC_000002.11:g.179417391T>A , CM000664.1:g.179417391T>A	GRCh37
NC_000002.10:g.179125637T>A	NCBI36
NG_011618.3:g.283139A>T , LRG_391:g.283139A>T
NG_051363.1:g.34838T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82532A>T (TTN)	ENSP00000343764.6:p.His27511Leu
ENST00000342175.11:c.63617A>T (TTN)	ENSP00000340554.6:p.His21206Leu
ENST00000359218.10:c.63416A>T (TTN)	ENSP00000352154.5:p.His21139Leu
ENST00000342175.10:c.63617A>T (TTN)	ENSP00000340554.6:p.His21206Leu
ENST00000342992.10:c.82532A>T (TTN)	ENSP00000343764.6:p.His27511Leu
ENST00000359218.9:c.63416A>T (TTN)	ENSP00000352154.5:p.His21139Leu
ENST00000460472.6:c.63041A>T (TTN)	ENSP00000434586.1:p.His21014Leu
ENST00000589042.5:c.90236A>T (TTN) MANE Select	ENSP00000467141.1:p.His30079Leu
ENST00000591111.5:c.85313A>T (TTN)	ENSP00000465570.1:p.His28438Leu
ENST00000615779.4:c.85313A>T (TTN)	ENSP00000483597.1:p.His28438Leu
NM_001256850.1:c.85313A>T (TTN)	NP_001243779.1:p.His28438Leu
NM_001267550.2:c.90236A>T (TTN) MANE Select	NP_001254479.2:p.His30079Leu
NM_003319.4:c.63041A>T (TTN)	NP_003310.4:p.His21014Leu
NM_133378.4:c.82532A>T (TTN)	NP_596869.4:p.His27511Leu
NM_133432.3:c.63416A>T (TTN)	NP_597676.3:p.His21139Leu
NM_133437.4:c.63617A>T (TTN)	NP_597681.4:p.His21206Leu
NR_038271.1:n.447-18636T>A (TTN-AS1)
NR_038272.1:n.2043+10303T>A (TTN-AS1)
XM_011511729.1:c.89333A>T (TTN)	XP_011510031.1:p.His29778Leu
XM_011511730.1:c.63227A>T (TTN)	XP_011510032.1:p.His21076Leu
XM_011511731.1:c.63086A>T (TTN)	XP_011510033.1:p.His21029Leu
XM_017004819.1:c.89129A>T (TTN)	XP_016860308.1:p.His29710Leu
XM_017004820.1:c.84527A>T (TTN)	XP_016860309.1:p.His28176Leu
XM_017004821.1:c.84524A>T (TTN)	XP_016860310.1:p.His28175Leu
XM_017004822.1:c.81566A>T (TTN)	XP_016860311.1:p.His27189Leu
XM_017004823.1:c.63182A>T (TTN)	XP_016860312.1:p.His21061Leu
XM_024453094.1:c.84677A>T (TTN)	XP_024308862.1:p.His28226Leu
XM_024453095.1:c.84674A>T (TTN)	XP_024308863.1:p.His28225Leu
XM_024453096.1:c.84107A>T (TTN)	XP_024308864.1:p.His28036Leu
XM_024453097.1:c.81449A>T (TTN)	XP_024308865.1:p.His27150Leu
XM_024453098.1:c.81368A>T (TTN)	XP_024308866.1:p.His27123Leu
XM_024453099.1:c.63131A>T (TTN)	XP_024308867.1:p.His21044Leu
XM_024453100.1:c.52985A>T (TTN)	XP_024308868.1:p.His17662Leu