Canonical Allele Identifier: CA16603877

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 380206
• ClinVar RCV Id: RCV000438577 ; RCV001059058
• dbSNP Id: rs1057520803
• MyVariant Identifiers: chr2:g.179425345A>C (hg19) ; chr2:g.178560618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560618A>C , CM000664.2:g.178560618A>C	GRCh38
NC_000002.11:g.179425345A>C , CM000664.1:g.179425345A>C	GRCh37
NC_000002.10:g.179133591A>C	NCBI36
NG_011618.3:g.275185T>G , LRG_391:g.275185T>G
NG_051363.1:g.42792A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.77810T>G (TTN)	ENSP00000343764.6:p.Leu25937Ter
ENST00000342175.11:c.58895T>G (TTN)	ENSP00000340554.6:p.Leu19632Ter
ENST00000359218.10:c.58694T>G (TTN)	ENSP00000352154.5:p.Leu19565Ter
ENST00000342175.10:c.58895T>G (TTN)	ENSP00000340554.6:p.Leu19632Ter
ENST00000342992.10:c.77810T>G (TTN)	ENSP00000343764.6:p.Leu25937Ter
ENST00000359218.9:c.58694T>G (TTN)	ENSP00000352154.5:p.Leu19565Ter
ENST00000460472.6:c.58319T>G (TTN)	ENSP00000434586.1:p.Leu19440Ter
ENST00000589042.5:c.85514T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu28505Ter
ENST00000591111.5:c.80591T>G (TTN)	ENSP00000465570.1:p.Leu26864Ter
ENST00000615779.4:c.80591T>G (TTN)	ENSP00000483597.1:p.Leu26864Ter
NM_001256850.1:c.80591T>G (TTN)	NP_001243779.1:p.Leu26864Ter
NM_001267550.2:c.85514T>G (TTN) MANE Select	NP_001254479.2:p.Leu28505Ter
NM_003319.4:c.58319T>G (TTN)	NP_003310.4:p.Leu19440Ter
NM_133378.4:c.77810T>G (TTN)	NP_596869.4:p.Leu25937Ter
NM_133432.3:c.58694T>G (TTN)	NP_597676.3:p.Leu19565Ter
NM_133437.4:c.58895T>G (TTN)	NP_597681.4:p.Leu19632Ter
NR_038271.1:n.447-10682A>C (TTN-AS1)
NR_038272.1:n.2043+18257A>C (TTN-AS1)
XM_011511729.1:c.84611T>G (TTN)	XP_011510031.1:p.Leu28204Ter
XM_011511730.1:c.58505T>G (TTN)	XP_011510032.1:p.Leu19502Ter
XM_011511731.1:c.58364T>G (TTN)	XP_011510033.1:p.Leu19455Ter
XM_017004819.1:c.84407T>G (TTN)	XP_016860308.1:p.Leu28136Ter
XM_017004820.1:c.79805T>G (TTN)	XP_016860309.1:p.Leu26602Ter
XM_017004821.1:c.79802T>G (TTN)	XP_016860310.1:p.Leu26601Ter
XM_017004822.1:c.76844T>G (TTN)	XP_016860311.1:p.Leu25615Ter
XM_017004823.1:c.58460T>G (TTN)	XP_016860312.1:p.Leu19487Ter
XM_024453094.1:c.79955T>G (TTN)	XP_024308862.1:p.Leu26652Ter
XM_024453095.1:c.79952T>G (TTN)	XP_024308863.1:p.Leu26651Ter
XM_024453096.1:c.79385T>G (TTN)	XP_024308864.1:p.Leu26462Ter
XM_024453097.1:c.76727T>G (TTN)	XP_024308865.1:p.Leu25576Ter
XM_024453098.1:c.76646T>G (TTN)	XP_024308866.1:p.Leu25549Ter
XM_024453099.1:c.58409T>G (TTN)	XP_024308867.1:p.Leu19470Ter
XM_024453100.1:c.48263T>G (TTN)	XP_024308868.1:p.Leu16088Ter