Canonical Allele Identifier: CA430274460

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178618047-A-T
• MyVariant Identifiers: chr2:g.179482774A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618047A>T , CM000664.2:g.178618047A>T	GRCh38
NC_000002.11:g.179482774A>T , CM000664.1:g.179482774A>T	GRCh37
NC_000002.10:g.179191019A>T	NCBI36
NG_011618.3:g.217756T>A , LRG_391:g.217756T>A
NG_051363.1:g.100221A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39600T>A (TTN)	ENSP00000343764.6:p.Thr13200=
ENST00000342175.11:c.20685T>A (TTN)	ENSP00000340554.6:p.Thr6895=
ENST00000359218.10:c.20484T>A (TTN)	ENSP00000352154.5:p.Thr6828=
ENST00000342175.10:c.20685T>A (TTN)	ENSP00000340554.6:p.Thr6895=
ENST00000342992.10:c.39600T>A (TTN)	ENSP00000343764.6:p.Thr13200=
ENST00000359218.9:c.20484T>A (TTN)	ENSP00000352154.5:p.Thr6828=
ENST00000460472.6:c.20109T>A (TTN)	ENSP00000434586.1:p.Thr6703=
ENST00000589042.5:c.47304T>A (TTN) MANE Select	ENSP00000467141.1:p.Thr15768=
ENST00000591111.5:c.42381T>A (TTN)	ENSP00000465570.1:p.Thr14127=
ENST00000615779.4:c.42381T>A (TTN)	ENSP00000483597.1:p.Thr14127=
NM_001256850.1:c.42381T>A (TTN)	NP_001243779.1:p.Thr14127=
NM_001267550.2:c.47304T>A (TTN) MANE Select	NP_001254479.2:p.Thr15768=
NM_003319.4:c.20109T>A (TTN)	NP_003310.4:p.Thr6703=
NM_133378.4:c.39600T>A (TTN)	NP_596869.4:p.Thr13200=
NM_133432.3:c.20484T>A (TTN)	NP_597676.3:p.Thr6828=
NM_133437.4:c.20685T>A (TTN)	NP_597681.4:p.Thr6895=
NR_038271.1:n.1605-1706A>T (TTN-AS1)
XM_011511729.1:c.46401T>A (TTN)	XP_011510031.1:p.Thr15467=
XM_011511730.1:c.20295T>A (TTN)	XP_011510032.1:p.Thr6765=
XM_011511731.1:c.20154T>A (TTN)	XP_011510033.1:p.Thr6718=
XM_017004819.1:c.46197T>A (TTN)	XP_016860308.1:p.Thr15399=
XM_017004820.1:c.41595T>A (TTN)	XP_016860309.1:p.Thr13865=
XM_017004821.1:c.41592T>A (TTN)	XP_016860310.1:p.Thr13864=
XM_017004822.1:c.38634T>A (TTN)	XP_016860311.1:p.Thr12878=
XM_017004823.1:c.20250T>A (TTN)	XP_016860312.1:p.Thr6750=
XM_024453094.1:c.41745T>A (TTN)	XP_024308862.1:p.Thr13915=
XM_024453095.1:c.41742T>A (TTN)	XP_024308863.1:p.Thr13914=
XM_024453096.1:c.41175T>A (TTN)	XP_024308864.1:p.Thr13725=
XM_024453097.1:c.38517T>A (TTN)	XP_024308865.1:p.Thr12839=
XM_024453098.1:c.38436T>A (TTN)	XP_024308866.1:p.Thr12812=
XM_024453099.1:c.20199T>A (TTN)	XP_024308867.1:p.Thr6733=
XM_024453100.1:c.10053T>A (TTN)	XP_024308868.1:p.Thr3351=