Canonical Allele Identifier: CA16610236

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404812
• ClinVar RCV Id: RCV001377609 ; RCV002489006
• dbSNP Id: rs1060500457
• gnomAD v4: 2-178553039-C-T
• MyVariant Identifiers: chr2:g.179417766C>T (hg19) ; chr2:g.178553039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553039C>T , CM000664.2:g.178553039C>T	GRCh38
NC_000002.11:g.179417766C>T , CM000664.1:g.179417766C>T	GRCh37
NC_000002.10:g.179126012C>T	NCBI36
NG_011618.3:g.282764G>A , LRG_391:g.282764G>A
NG_051363.1:g.35213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82157G>A (TTN)	ENSP00000343764.6:p.Trp27386Ter
ENST00000342175.11:c.63242G>A (TTN)	ENSP00000340554.6:p.Trp21081Ter
ENST00000359218.10:c.63041G>A (TTN)	ENSP00000352154.5:p.Trp21014Ter
ENST00000342175.10:c.63242G>A (TTN)	ENSP00000340554.6:p.Trp21081Ter
ENST00000342992.10:c.82157G>A (TTN)	ENSP00000343764.6:p.Trp27386Ter
ENST00000359218.9:c.63041G>A (TTN)	ENSP00000352154.5:p.Trp21014Ter
ENST00000460472.6:c.62666G>A (TTN)	ENSP00000434586.1:p.Trp20889Ter
ENST00000589042.5:c.89861G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp29954Ter
ENST00000591111.5:c.84938G>A (TTN)	ENSP00000465570.1:p.Trp28313Ter
ENST00000615779.4:c.84938G>A (TTN)	ENSP00000483597.1:p.Trp28313Ter
NM_001256850.1:c.84938G>A (TTN)	NP_001243779.1:p.Trp28313Ter
NM_001267550.2:c.89861G>A (TTN) MANE Select	NP_001254479.2:p.Trp29954Ter
NM_003319.4:c.62666G>A (TTN)	NP_003310.4:p.Trp20889Ter
NM_133378.4:c.82157G>A (TTN)	NP_596869.4:p.Trp27386Ter
NM_133432.3:c.63041G>A (TTN)	NP_597676.3:p.Trp21014Ter
NM_133437.4:c.63242G>A (TTN)	NP_597681.4:p.Trp21081Ter
NR_038271.1:n.447-18261C>T (TTN-AS1)
NR_038272.1:n.2043+10678C>T (TTN-AS1)
XM_011511729.1:c.88958G>A (TTN)	XP_011510031.1:p.Trp29653Ter
XM_011511730.1:c.62852G>A (TTN)	XP_011510032.1:p.Trp20951Ter
XM_011511731.1:c.62711G>A (TTN)	XP_011510033.1:p.Trp20904Ter
XM_017004819.1:c.88754G>A (TTN)	XP_016860308.1:p.Trp29585Ter
XM_017004820.1:c.84152G>A (TTN)	XP_016860309.1:p.Trp28051Ter
XM_017004821.1:c.84149G>A (TTN)	XP_016860310.1:p.Trp28050Ter
XM_017004822.1:c.81191G>A (TTN)	XP_016860311.1:p.Trp27064Ter
XM_017004823.1:c.62807G>A (TTN)	XP_016860312.1:p.Trp20936Ter
XM_024453094.1:c.84302G>A (TTN)	XP_024308862.1:p.Trp28101Ter
XM_024453095.1:c.84299G>A (TTN)	XP_024308863.1:p.Trp28100Ter
XM_024453096.1:c.83732G>A (TTN)	XP_024308864.1:p.Trp27911Ter
XM_024453097.1:c.81074G>A (TTN)	XP_024308865.1:p.Trp27025Ter
XM_024453098.1:c.80993G>A (TTN)	XP_024308866.1:p.Trp26998Ter
XM_024453099.1:c.62756G>A (TTN)	XP_024308867.1:p.Trp20919Ter
XM_024453100.1:c.52610G>A (TTN)	XP_024308868.1:p.Trp17537Ter