Canonical Allele Identifier: CA349427123

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401901C>A (hg19) ; chr2:g.178537174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537174C>A , CM000664.2:g.178537174C>A	GRCh38
NC_000002.11:g.179401901C>A , CM000664.1:g.179401901C>A	GRCh37
NC_000002.10:g.179110147C>A	NCBI36
NG_011618.3:g.298629G>T , LRG_391:g.298629G>T
NG_051363.1:g.19348C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92231G>T (TTN)	ENSP00000343764.6:p.Trp30744Leu
ENST00000342175.11:c.73316G>T (TTN)	ENSP00000340554.6:p.Trp24439Leu
ENST00000359218.10:c.73115G>T (TTN)	ENSP00000352154.5:p.Trp24372Leu
ENST00000342175.10:c.73316G>T (TTN)	ENSP00000340554.6:p.Trp24439Leu
ENST00000342992.10:c.92231G>T (TTN)	ENSP00000343764.6:p.Trp30744Leu
ENST00000359218.9:c.73115G>T (TTN)	ENSP00000352154.5:p.Trp24372Leu
ENST00000460472.6:c.72740G>T (TTN)	ENSP00000434586.1:p.Trp24247Leu
ENST00000589042.5:c.99935G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp33312Leu
ENST00000591111.5:c.95012G>T (TTN)	ENSP00000465570.1:p.Trp31671Leu
ENST00000615779.4:c.95012G>T (TTN)	ENSP00000483597.1:p.Trp31671Leu
NM_001256850.1:c.95012G>T (TTN)	NP_001243779.1:p.Trp31671Leu
NM_001267550.2:c.99935G>T (TTN) MANE Select	NP_001254479.2:p.Trp33312Leu
NM_003319.4:c.72740G>T (TTN)	NP_003310.4:p.Trp24247Leu
NM_133378.4:c.92231G>T (TTN)	NP_596869.4:p.Trp30744Leu
NM_133432.3:c.73115G>T (TTN)	NP_597676.3:p.Trp24372Leu
NM_133437.4:c.73316G>T (TTN)	NP_597681.4:p.Trp24439Leu
NR_038271.1:n.446+13538C>A (TTN-AS1)
NR_038272.1:n.317-187C>A (TTN-AS1)
XM_011511729.1:c.99032G>T (TTN)	XP_011510031.1:p.Trp33011Leu
XM_011511730.1:c.72926G>T (TTN)	XP_011510032.1:p.Trp24309Leu
XM_011511731.1:c.72785G>T (TTN)	XP_011510033.1:p.Trp24262Leu
XM_017004819.1:c.98828G>T (TTN)	XP_016860308.1:p.Trp32943Leu
XM_017004820.1:c.94226G>T (TTN)	XP_016860309.1:p.Trp31409Leu
XM_017004821.1:c.94223G>T (TTN)	XP_016860310.1:p.Trp31408Leu
XM_017004822.1:c.91265G>T (TTN)	XP_016860311.1:p.Trp30422Leu
XM_017004823.1:c.72881G>T (TTN)	XP_016860312.1:p.Trp24294Leu
XM_024453094.1:c.94376G>T (TTN)	XP_024308862.1:p.Trp31459Leu
XM_024453095.1:c.94373G>T (TTN)	XP_024308863.1:p.Trp31458Leu
XM_024453096.1:c.93806G>T (TTN)	XP_024308864.1:p.Trp31269Leu
XM_024453097.1:c.91148G>T (TTN)	XP_024308865.1:p.Trp30383Leu
XM_024453098.1:c.91067G>T (TTN)	XP_024308866.1:p.Trp30356Leu
XM_024453099.1:c.72830G>T (TTN)	XP_024308867.1:p.Trp24277Leu
XM_024453100.1:c.62684G>T (TTN)	XP_024308868.1:p.Trp20895Leu