Canonical Allele Identifier: CA430103959

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.178614665G>T , CM000664.2:g.178614665G>T	GRCh38
NC_000002.11:g.179479392G>T , CM000664.1:g.179479392G>T	GRCh37
NC_000002.10:g.179187637G>T	NCBI36
NG_011618.3:g.221138C>A , LRG_391:g.221138C>A
NG_051363.1:g.96839G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41145C>A (TTN)	ENSP00000343764.6:p.Thr13715=
ENST00000342175.11:c.22230C>A (TTN)	ENSP00000340554.6:p.Thr7410=
ENST00000359218.10:c.22029C>A (TTN)	ENSP00000352154.5:p.Thr7343=
ENST00000342175.10:c.22230C>A (TTN)	ENSP00000340554.6:p.Thr7410=
ENST00000342992.10:c.41145C>A (TTN)	ENSP00000343764.6:p.Thr13715=
ENST00000359218.9:c.22029C>A (TTN)	ENSP00000352154.5:p.Thr7343=
ENST00000460472.6:c.21654C>A (TTN)	ENSP00000434586.1:p.Thr7218=
ENST00000589042.5:c.48849C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr16283=
ENST00000591111.5:c.43926C>A (TTN)	ENSP00000465570.1:p.Thr14642=
ENST00000615779.4:c.43926C>A (TTN)	ENSP00000483597.1:p.Thr14642=
NM_001256850.1:c.43926C>A (TTN)	NP_001243779.1:p.Thr14642=
NM_001267550.2:c.48849C>A (TTN) MANE Select	NP_001254479.2:p.Thr16283=
NM_003319.4:c.21654C>A (TTN)	NP_003310.4:p.Thr7218=
NM_133378.4:c.41145C>A (TTN)	NP_596869.4:p.Thr13715=
NM_133432.3:c.22029C>A (TTN)	NP_597676.3:p.Thr7343=
NM_133437.4:c.22230C>A (TTN)	NP_597681.4:p.Thr7410=
NR_038271.1:n.1413G>T (TTN-AS1)
XM_011511729.1:c.47946C>A (TTN)	XP_011510031.1:p.Thr15982=
XM_011511730.1:c.21840C>A (TTN)	XP_011510032.1:p.Thr7280=
XM_011511731.1:c.21699C>A (TTN)	XP_011510033.1:p.Thr7233=
XM_017004819.1:c.47742C>A (TTN)	XP_016860308.1:p.Thr15914=
XM_017004820.1:c.43140C>A (TTN)	XP_016860309.1:p.Thr14380=
XM_017004821.1:c.43137C>A (TTN)	XP_016860310.1:p.Thr14379=
XM_017004822.1:c.40179C>A (TTN)	XP_016860311.1:p.Thr13393=
XM_017004823.1:c.21795C>A (TTN)	XP_016860312.1:p.Thr7265=
XM_024453094.1:c.43290C>A (TTN)	XP_024308862.1:p.Thr14430=
XM_024453095.1:c.43287C>A (TTN)	XP_024308863.1:p.Thr14429=
XM_024453096.1:c.42720C>A (TTN)	XP_024308864.1:p.Thr14240=
XM_024453097.1:c.40062C>A (TTN)	XP_024308865.1:p.Thr13354=
XM_024453098.1:c.39981C>A (TTN)	XP_024308866.1:p.Thr13327=
XM_024453099.1:c.21744C>A (TTN)	XP_024308867.1:p.Thr7248=
XM_024453100.1:c.11598C>A (TTN)	XP_024308868.1:p.Thr3866=