Canonical Allele Identifier: CA349499905

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457920A>C (hg19) ; chr2:g.178593193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593193A>C , CM000664.2:g.178593193A>C	GRCh38
NC_000002.11:g.179457920A>C , CM000664.1:g.179457920A>C	GRCh37
NC_000002.10:g.179166166A>C	NCBI36
NG_011618.3:g.242610T>G , LRG_391:g.242610T>G
NG_051363.1:g.75367A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51311T>G (TTN)	ENSP00000343764.6:p.Val17104Gly
ENST00000342175.11:c.32396T>G (TTN)	ENSP00000340554.6:p.Val10799Gly
ENST00000359218.10:c.32195T>G (TTN)	ENSP00000352154.5:p.Val10732Gly
ENST00000342175.10:c.32396T>G (TTN)	ENSP00000340554.6:p.Val10799Gly
ENST00000342992.10:c.51311T>G (TTN)	ENSP00000343764.6:p.Val17104Gly
ENST00000359218.9:c.32195T>G (TTN)	ENSP00000352154.5:p.Val10732Gly
ENST00000460472.6:c.31820T>G (TTN)	ENSP00000434586.1:p.Val10607Gly
ENST00000589042.5:c.59015T>G (TTN) MANE Select	ENSP00000467141.1:p.Val19672Gly
ENST00000591111.5:c.54092T>G (TTN)	ENSP00000465570.1:p.Val18031Gly
ENST00000615779.4:c.54092T>G (TTN)	ENSP00000483597.1:p.Val18031Gly
NM_001256850.1:c.54092T>G (TTN)	NP_001243779.1:p.Val18031Gly
NM_001267550.2:c.59015T>G (TTN) MANE Select	NP_001254479.2:p.Val19672Gly
NM_003319.4:c.31820T>G (TTN)	NP_003310.4:p.Val10607Gly
NM_133378.4:c.51311T>G (TTN)	NP_596869.4:p.Val17104Gly
NM_133432.3:c.32195T>G (TTN)	NP_597676.3:p.Val10732Gly
NM_133437.4:c.32396T>G (TTN)	NP_597681.4:p.Val10799Gly
NR_038271.1:n.597-4403A>C (TTN-AS1)
NR_038272.1:n.3364+1879A>C (TTN-AS1)
XM_011511729.1:c.58112T>G (TTN)	XP_011510031.1:p.Val19371Gly
XM_011511730.1:c.32006T>G (TTN)	XP_011510032.1:p.Val10669Gly
XM_011511731.1:c.31865T>G (TTN)	XP_011510033.1:p.Val10622Gly
XM_017004819.1:c.57908T>G (TTN)	XP_016860308.1:p.Val19303Gly
XM_017004820.1:c.53306T>G (TTN)	XP_016860309.1:p.Val17769Gly
XM_017004821.1:c.53303T>G (TTN)	XP_016860310.1:p.Val17768Gly
XM_017004822.1:c.50345T>G (TTN)	XP_016860311.1:p.Val16782Gly
XM_017004823.1:c.31961T>G (TTN)	XP_016860312.1:p.Val10654Gly
XM_024453094.1:c.53456T>G (TTN)	XP_024308862.1:p.Val17819Gly
XM_024453095.1:c.53453T>G (TTN)	XP_024308863.1:p.Val17818Gly
XM_024453096.1:c.52886T>G (TTN)	XP_024308864.1:p.Val17629Gly
XM_024453097.1:c.50228T>G (TTN)	XP_024308865.1:p.Val16743Gly
XM_024453098.1:c.50147T>G (TTN)	XP_024308866.1:p.Val16716Gly
XM_024453099.1:c.31910T>G (TTN)	XP_024308867.1:p.Val10637Gly
XM_024453100.1:c.21764T>G (TTN)	XP_024308868.1:p.Val7255Gly