Canonical Allele Identifier: CA349619062

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482973C>A (hg19) ; chr2:g.178618246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618246C>A , CM000664.2:g.178618246C>A	GRCh38
NC_000002.11:g.179482973C>A , CM000664.1:g.179482973C>A	GRCh37
NC_000002.10:g.179191218C>A	NCBI36
NG_011618.3:g.217557G>T , LRG_391:g.217557G>T
NG_051363.1:g.100420C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39508G>T (TTN)	ENSP00000343764.6:p.Val13170Phe
ENST00000342175.11:c.20593G>T (TTN)	ENSP00000340554.6:p.Val6865Phe
ENST00000359218.10:c.20392G>T (TTN)	ENSP00000352154.5:p.Val6798Phe
ENST00000342175.10:c.20593G>T (TTN)	ENSP00000340554.6:p.Val6865Phe
ENST00000342992.10:c.39508G>T (TTN)	ENSP00000343764.6:p.Val13170Phe
ENST00000359218.9:c.20392G>T (TTN)	ENSP00000352154.5:p.Val6798Phe
ENST00000460472.6:c.20017G>T (TTN)	ENSP00000434586.1:p.Val6673Phe
ENST00000589042.5:c.47212G>T (TTN) MANE Select	ENSP00000467141.1:p.Val15738Phe
ENST00000591111.5:c.42289G>T (TTN)	ENSP00000465570.1:p.Val14097Phe
ENST00000615779.4:c.42289G>T (TTN)	ENSP00000483597.1:p.Val14097Phe
NM_001256850.1:c.42289G>T (TTN)	NP_001243779.1:p.Val14097Phe
NM_001267550.2:c.47212G>T (TTN) MANE Select	NP_001254479.2:p.Val15738Phe
NM_003319.4:c.20017G>T (TTN)	NP_003310.4:p.Val6673Phe
NM_133378.4:c.39508G>T (TTN)	NP_596869.4:p.Val13170Phe
NM_133432.3:c.20392G>T (TTN)	NP_597676.3:p.Val6798Phe
NM_133437.4:c.20593G>T (TTN)	NP_597681.4:p.Val6865Phe
NR_038271.1:n.1605-1507C>A (TTN-AS1)
XM_011511729.1:c.46309G>T (TTN)	XP_011510031.1:p.Val15437Phe
XM_011511730.1:c.20203G>T (TTN)	XP_011510032.1:p.Val6735Phe
XM_011511731.1:c.20062G>T (TTN)	XP_011510033.1:p.Val6688Phe
XM_017004819.1:c.46105G>T (TTN)	XP_016860308.1:p.Val15369Phe
XM_017004820.1:c.41503G>T (TTN)	XP_016860309.1:p.Val13835Phe
XM_017004821.1:c.41500G>T (TTN)	XP_016860310.1:p.Val13834Phe
XM_017004822.1:c.38542G>T (TTN)	XP_016860311.1:p.Val12848Phe
XM_017004823.1:c.20158G>T (TTN)	XP_016860312.1:p.Val6720Phe
XM_024453094.1:c.41653G>T (TTN)	XP_024308862.1:p.Val13885Phe
XM_024453095.1:c.41650G>T (TTN)	XP_024308863.1:p.Val13884Phe
XM_024453096.1:c.41083G>T (TTN)	XP_024308864.1:p.Val13695Phe
XM_024453097.1:c.38425G>T (TTN)	XP_024308865.1:p.Val12809Phe
XM_024453098.1:c.38344G>T (TTN)	XP_024308866.1:p.Val12782Phe
XM_024453099.1:c.20107G>T (TTN)	XP_024308867.1:p.Val6703Phe
XM_024453100.1:c.9961G>T (TTN)	XP_024308868.1:p.Val3321Phe