Canonical Allele Identifier: CA349450312

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408572A>C (hg19) ; chr2:g.178543845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543845A>C , CM000664.2:g.178543845A>C	GRCh38
NC_000002.11:g.179408572A>C , CM000664.1:g.179408572A>C	GRCh37
NC_000002.10:g.179116818A>C	NCBI36
NG_011618.3:g.291958T>G , LRG_391:g.291958T>G
NG_051363.1:g.26019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88595T>G (TTN)	ENSP00000343764.6:p.Val29532Gly
ENST00000342175.11:c.69680T>G (TTN)	ENSP00000340554.6:p.Val23227Gly
ENST00000359218.10:c.69479T>G (TTN)	ENSP00000352154.5:p.Val23160Gly
ENST00000342175.10:c.69680T>G (TTN)	ENSP00000340554.6:p.Val23227Gly
ENST00000342992.10:c.88595T>G (TTN)	ENSP00000343764.6:p.Val29532Gly
ENST00000359218.9:c.69479T>G (TTN)	ENSP00000352154.5:p.Val23160Gly
ENST00000460472.6:c.69104T>G (TTN)	ENSP00000434586.1:p.Val23035Gly
ENST00000589042.5:c.96299T>G (TTN) MANE Select	ENSP00000467141.1:p.Val32100Gly
ENST00000591111.5:c.91376T>G (TTN)	ENSP00000465570.1:p.Val30459Gly
ENST00000615779.4:c.91376T>G (TTN)	ENSP00000483597.1:p.Val30459Gly
NM_001256850.1:c.91376T>G (TTN)	NP_001243779.1:p.Val30459Gly
NM_001267550.2:c.96299T>G (TTN) MANE Select	NP_001254479.2:p.Val32100Gly
NM_003319.4:c.69104T>G (TTN)	NP_003310.4:p.Val23035Gly
NM_133378.4:c.88595T>G (TTN)	NP_596869.4:p.Val29532Gly
NM_133432.3:c.69479T>G (TTN)	NP_597676.3:p.Val23160Gly
NM_133437.4:c.69680T>G (TTN)	NP_597681.4:p.Val23227Gly
NR_038271.1:n.446+20209A>C (TTN-AS1)
NR_038272.1:n.2043+1484A>C (TTN-AS1)
XM_011511729.1:c.95396T>G (TTN)	XP_011510031.1:p.Val31799Gly
XM_011511730.1:c.69290T>G (TTN)	XP_011510032.1:p.Val23097Gly
XM_011511731.1:c.69149T>G (TTN)	XP_011510033.1:p.Val23050Gly
XM_017004819.1:c.95192T>G (TTN)	XP_016860308.1:p.Val31731Gly
XM_017004820.1:c.90590T>G (TTN)	XP_016860309.1:p.Val30197Gly
XM_017004821.1:c.90587T>G (TTN)	XP_016860310.1:p.Val30196Gly
XM_017004822.1:c.87629T>G (TTN)	XP_016860311.1:p.Val29210Gly
XM_017004823.1:c.69245T>G (TTN)	XP_016860312.1:p.Val23082Gly
XM_024453094.1:c.90740T>G (TTN)	XP_024308862.1:p.Val30247Gly
XM_024453095.1:c.90737T>G (TTN)	XP_024308863.1:p.Val30246Gly
XM_024453096.1:c.90170T>G (TTN)	XP_024308864.1:p.Val30057Gly
XM_024453097.1:c.87512T>G (TTN)	XP_024308865.1:p.Val29171Gly
XM_024453098.1:c.87431T>G (TTN)	XP_024308866.1:p.Val29144Gly
XM_024453099.1:c.69194T>G (TTN)	XP_024308867.1:p.Val23065Gly
XM_024453100.1:c.59048T>G (TTN)	XP_024308868.1:p.Val19683Gly