Canonical Allele Identifier: CA349623238

Gene: TTN TTN-AS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178619714G>A , CM000664.2:g.178619714G>A	GRCh38
NC_000002.11:g.179484441G>A , CM000664.1:g.179484441G>A	GRCh37
NC_000002.10:g.179192686G>A	NCBI36
NG_011618.3:g.216089C>T , LRG_391:g.216089C>T
NG_051363.1:g.101888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38899C>T (TTN)	ENSP00000343764.6:p.Arg12967Ter
ENST00000342175.11:c.19984C>T (TTN)	ENSP00000340554.6:p.Arg6662Ter
ENST00000359218.10:c.19783C>T (TTN)	ENSP00000352154.5:p.Arg6595Ter
ENST00000342175.10:c.19984C>T (TTN)	ENSP00000340554.6:p.Arg6662Ter
ENST00000342992.10:c.38899C>T (TTN)	ENSP00000343764.6:p.Arg12967Ter
ENST00000359218.9:c.19783C>T (TTN)	ENSP00000352154.5:p.Arg6595Ter
ENST00000460472.6:c.19408C>T (TTN)	ENSP00000434586.1:p.Arg6470Ter
ENST00000589042.5:c.46603C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg15535Ter
ENST00000591111.5:c.41680C>T (TTN)	ENSP00000465570.1:p.Arg13894Ter
ENST00000615779.4:c.41680C>T (TTN)	ENSP00000483597.1:p.Arg13894Ter
NM_001256850.1:c.41680C>T (TTN)	NP_001243779.1:p.Arg13894Ter
NM_001267550.2:c.46603C>T (TTN) MANE Select	NP_001254479.2:p.Arg15535Ter
NM_003319.4:c.19408C>T (TTN)	NP_003310.4:p.Arg6470Ter
NM_133378.4:c.38899C>T (TTN)	NP_596869.4:p.Arg12967Ter
NM_133432.3:c.19783C>T (TTN)	NP_597676.3:p.Arg6595Ter
NM_133437.4:c.19984C>T (TTN)	NP_597681.4:p.Arg6662Ter
NR_038271.1:n.1605-39G>A (TTN-AS1)
XM_011511729.1:c.45700C>T (TTN)	XP_011510031.1:p.Arg15234Ter
XM_011511730.1:c.19594C>T (TTN)	XP_011510032.1:p.Arg6532Ter
XM_011511731.1:c.19453C>T (TTN)	XP_011510033.1:p.Arg6485Ter
XM_017004819.1:c.45496C>T (TTN)	XP_016860308.1:p.Arg15166Ter
XM_017004820.1:c.40894C>T (TTN)	XP_016860309.1:p.Arg13632Ter
XM_017004821.1:c.40891C>T (TTN)	XP_016860310.1:p.Arg13631Ter
XM_017004822.1:c.37933C>T (TTN)	XP_016860311.1:p.Arg12645Ter
XM_017004823.1:c.19549C>T (TTN)	XP_016860312.1:p.Arg6517Ter
XM_024453094.1:c.41044C>T (TTN)	XP_024308862.1:p.Arg13682Ter
XM_024453095.1:c.41041C>T (TTN)	XP_024308863.1:p.Arg13681Ter
XM_024453096.1:c.40474C>T (TTN)	XP_024308864.1:p.Arg13492Ter
XM_024453097.1:c.37816C>T (TTN)	XP_024308865.1:p.Arg12606Ter
XM_024453098.1:c.37735C>T (TTN)	XP_024308866.1:p.Arg12579Ter
XM_024453099.1:c.19498C>T (TTN)	XP_024308867.1:p.Arg6500Ter
XM_024453100.1:c.9352C>T (TTN)	XP_024308868.1:p.Arg3118Ter