Canonical Allele Identifier: CA1985104

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535503
• ClinVar RCV Id: RCV000643518 ; RCV001417452
• dbSNP Id: rs377463445
• ExAC: 2:179394795 A / T
• gnomAD v2: 2-179394795-A-T
• gnomAD v3: 2-178530068-A-T
• gnomAD v4: 2-178530068-A-T
• MyVariant Identifiers: chr2:g.179394795A>T (hg19) ; chr2:g.178530068A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530068A>T , CM000664.2:g.178530068A>T	GRCh38
NC_000002.11:g.179394795A>T , CM000664.1:g.179394795A>T	GRCh37
NC_000002.10:g.179103041A>T	NCBI36
NG_011618.3:g.305735T>A , LRG_391:g.305735T>A
NG_051363.1:g.12242A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98719T>A (TTN)	ENSP00000343764.6:p.Phe32907Ile
ENST00000342175.11:c.79804T>A (TTN)	ENSP00000340554.6:p.Phe26602Ile
ENST00000359218.10:c.79603T>A (TTN)	ENSP00000352154.5:p.Phe26535Ile
ENST00000342175.10:c.79804T>A (TTN)	ENSP00000340554.6:p.Phe26602Ile
ENST00000342992.10:c.98719T>A (TTN)	ENSP00000343764.6:p.Phe32907Ile
ENST00000359218.9:c.79603T>A (TTN)	ENSP00000352154.5:p.Phe26535Ile
ENST00000460472.6:c.79228T>A (TTN)	ENSP00000434586.1:p.Phe26410Ile
ENST00000589042.5:c.106423T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe35475Ile
ENST00000591111.5:c.101500T>A (TTN)	ENSP00000465570.1:p.Phe33834Ile
ENST00000615779.4:c.101500T>A (TTN)	ENSP00000483597.1:p.Phe33834Ile
NM_001256850.1:c.101500T>A (TTN)	NP_001243779.1:p.Phe33834Ile
NM_001267550.2:c.106423T>A (TTN) MANE Select	NP_001254479.2:p.Phe35475Ile
NM_003319.4:c.79228T>A (TTN)	NP_003310.4:p.Phe26410Ile
NM_133378.4:c.98719T>A (TTN)	NP_596869.4:p.Phe32907Ile
NM_133432.3:c.79603T>A (TTN)	NP_597676.3:p.Phe26535Ile
NM_133437.4:c.79804T>A (TTN)	NP_597681.4:p.Phe26602Ile
NR_038271.1:n.446+6432A>T (TTN-AS1)
NR_038272.1:n.220-5664A>T (TTN-AS1)
XM_011511729.1:c.105520T>A (TTN)	XP_011510031.1:p.Phe35174Ile
XM_011511730.1:c.79414T>A (TTN)	XP_011510032.1:p.Phe26472Ile
XM_011511731.1:c.79273T>A (TTN)	XP_011510033.1:p.Phe26425Ile
XM_017004819.1:c.105316T>A (TTN)	XP_016860308.1:p.Phe35106Ile
XM_017004820.1:c.100714T>A (TTN)	XP_016860309.1:p.Phe33572Ile
XM_017004821.1:c.100711T>A (TTN)	XP_016860310.1:p.Phe33571Ile
XM_017004822.1:c.97753T>A (TTN)	XP_016860311.1:p.Phe32585Ile
XM_017004823.1:c.79369T>A (TTN)	XP_016860312.1:p.Phe26457Ile
XM_024453094.1:c.100864T>A (TTN)	XP_024308862.1:p.Phe33622Ile
XM_024453095.1:c.100861T>A (TTN)	XP_024308863.1:p.Phe33621Ile
XM_024453096.1:c.100294T>A (TTN)	XP_024308864.1:p.Phe33432Ile
XM_024453097.1:c.97636T>A (TTN)	XP_024308865.1:p.Phe32546Ile
XM_024453098.1:c.97555T>A (TTN)	XP_024308866.1:p.Phe32519Ile
XM_024453099.1:c.79318T>A (TTN)	XP_024308867.1:p.Phe26440Ile
XM_024453100.1:c.69172T>A (TTN)	XP_024308868.1:p.Phe23058Ile