Canonical Allele Identifier: CA273270

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 165975
• ClinVar RCV Id: RCV000152307 ; RCV002433665 ; RCV001378774 ; RCV002483316
• dbSNP Id: rs727503602
• MyVariant Identifiers: chr2:g.179468776C>T (hg19) ; chr2:g.178604049C>T (hg38)
• PubMed: PMID:22335739 ; PMID:24503780 ; PMID:25589632

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178604049C>T , CM000664.2:g.178604049C>T	GRCh38
NC_000002.11:g.179468776C>T , CM000664.1:g.179468776C>T	GRCh37
NC_000002.10:g.179177021C>T	NCBI36
NG_011618.3:g.231754G>A , LRG_391:g.231754G>A
NG_051363.1:g.86223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.46934G>A (TTN)	ENSP00000343764.6:p.Trp15645Ter
ENST00000342175.11:c.28019G>A (TTN)	ENSP00000340554.6:p.Trp9340Ter
ENST00000359218.10:c.27818G>A (TTN)	ENSP00000352154.5:p.Trp9273Ter
ENST00000342175.10:c.28019G>A (TTN)	ENSP00000340554.6:p.Trp9340Ter
ENST00000342992.10:c.46934G>A (TTN)	ENSP00000343764.6:p.Trp15645Ter
ENST00000359218.9:c.27818G>A (TTN)	ENSP00000352154.5:p.Trp9273Ter
ENST00000460472.6:c.27443G>A (TTN)	ENSP00000434586.1:p.Trp9148Ter
ENST00000589042.5:c.54638G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18213Ter
ENST00000591111.5:c.49715G>A (TTN)	ENSP00000465570.1:p.Trp16572Ter
ENST00000615779.4:c.49715G>A (TTN)	ENSP00000483597.1:p.Trp16572Ter
NM_001256850.1:c.49715G>A (TTN)	NP_001243779.1:p.Trp16572Ter
NM_001267550.2:c.54638G>A (TTN) MANE Select	NP_001254479.2:p.Trp18213Ter
NM_003319.4:c.27443G>A (TTN)	NP_003310.4:p.Trp9148Ter
NM_133378.4:c.46934G>A (TTN)	NP_596869.4:p.Trp15645Ter
NM_133432.3:c.27818G>A (TTN)	NP_597676.3:p.Trp9273Ter
NM_133437.4:c.28019G>A (TTN)	NP_597681.4:p.Trp9340Ter
NR_038271.1:n.683-4118C>T (TTN-AS1)
NR_038272.1:n.3918-682C>T (TTN-AS1)
XM_011511729.1:c.53735G>A (TTN)	XP_011510031.1:p.Trp17912Ter
XM_011511730.1:c.27629G>A (TTN)	XP_011510032.1:p.Trp9210Ter
XM_011511731.1:c.27488G>A (TTN)	XP_011510033.1:p.Trp9163Ter
XM_017004819.1:c.53531G>A (TTN)	XP_016860308.1:p.Trp17844Ter
XM_017004820.1:c.48929G>A (TTN)	XP_016860309.1:p.Trp16310Ter
XM_017004821.1:c.48926G>A (TTN)	XP_016860310.1:p.Trp16309Ter
XM_017004822.1:c.45968G>A (TTN)	XP_016860311.1:p.Trp15323Ter
XM_017004823.1:c.27584G>A (TTN)	XP_016860312.1:p.Trp9195Ter
XM_024453094.1:c.49079G>A (TTN)	XP_024308862.1:p.Trp16360Ter
XM_024453095.1:c.49076G>A (TTN)	XP_024308863.1:p.Trp16359Ter
XM_024453096.1:c.48509G>A (TTN)	XP_024308864.1:p.Trp16170Ter
XM_024453097.1:c.45851G>A (TTN)	XP_024308865.1:p.Trp15284Ter
XM_024453098.1:c.45770G>A (TTN)	XP_024308866.1:p.Trp15257Ter
XM_024453099.1:c.27533G>A (TTN)	XP_024308867.1:p.Trp9178Ter
XM_024453100.1:c.17387G>A (TTN)	XP_024308868.1:p.Trp5796Ter