Canonical Allele Identifier: CA349622463

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178618787-A-G
• MyVariant Identifiers: chr2:g.179483514A>G (hg19) ; chr2:g.178618787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618787A>G , CM000664.2:g.178618787A>G	GRCh38
NC_000002.11:g.179483514A>G , CM000664.1:g.179483514A>G	GRCh37
NC_000002.10:g.179191759A>G	NCBI36
NG_011618.3:g.217016T>C , LRG_391:g.217016T>C
NG_051363.1:g.100961A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39059T>C (TTN)	ENSP00000343764.6:p.Val13020Ala
ENST00000342175.11:c.20144T>C (TTN)	ENSP00000340554.6:p.Val6715Ala
ENST00000359218.10:c.19943T>C (TTN)	ENSP00000352154.5:p.Val6648Ala
ENST00000342175.10:c.20144T>C (TTN)	ENSP00000340554.6:p.Val6715Ala
ENST00000342992.10:c.39059T>C (TTN)	ENSP00000343764.6:p.Val13020Ala
ENST00000359218.9:c.19943T>C (TTN)	ENSP00000352154.5:p.Val6648Ala
ENST00000460472.6:c.19568T>C (TTN)	ENSP00000434586.1:p.Val6523Ala
ENST00000589042.5:c.46763T>C (TTN) MANE Select	ENSP00000467141.1:p.Val15588Ala
ENST00000591111.5:c.41840T>C (TTN)	ENSP00000465570.1:p.Val13947Ala
ENST00000615779.4:c.41840T>C (TTN)	ENSP00000483597.1:p.Val13947Ala
NM_001256850.1:c.41840T>C (TTN)	NP_001243779.1:p.Val13947Ala
NM_001267550.2:c.46763T>C (TTN) MANE Select	NP_001254479.2:p.Val15588Ala
NM_003319.4:c.19568T>C (TTN)	NP_003310.4:p.Val6523Ala
NM_133378.4:c.39059T>C (TTN)	NP_596869.4:p.Val13020Ala
NM_133432.3:c.19943T>C (TTN)	NP_597676.3:p.Val6648Ala
NM_133437.4:c.20144T>C (TTN)	NP_597681.4:p.Val6715Ala
NR_038271.1:n.1605-966A>G (TTN-AS1)
XM_011511729.1:c.45860T>C (TTN)	XP_011510031.1:p.Val15287Ala
XM_011511730.1:c.19754T>C (TTN)	XP_011510032.1:p.Val6585Ala
XM_011511731.1:c.19613T>C (TTN)	XP_011510033.1:p.Val6538Ala
XM_017004819.1:c.45656T>C (TTN)	XP_016860308.1:p.Val15219Ala
XM_017004820.1:c.41054T>C (TTN)	XP_016860309.1:p.Val13685Ala
XM_017004821.1:c.41051T>C (TTN)	XP_016860310.1:p.Val13684Ala
XM_017004822.1:c.38093T>C (TTN)	XP_016860311.1:p.Val12698Ala
XM_017004823.1:c.19709T>C (TTN)	XP_016860312.1:p.Val6570Ala
XM_024453094.1:c.41204T>C (TTN)	XP_024308862.1:p.Val13735Ala
XM_024453095.1:c.41201T>C (TTN)	XP_024308863.1:p.Val13734Ala
XM_024453096.1:c.40634T>C (TTN)	XP_024308864.1:p.Val13545Ala
XM_024453097.1:c.37976T>C (TTN)	XP_024308865.1:p.Val12659Ala
XM_024453098.1:c.37895T>C (TTN)	XP_024308866.1:p.Val12632Ala
XM_024453099.1:c.19658T>C (TTN)	XP_024308867.1:p.Val6553Ala
XM_024453100.1:c.9512T>C (TTN)	XP_024308868.1:p.Val3171Ala