Canonical Allele Identifier: CA349622468

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483515C>A (hg19) ; chr2:g.178618788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618788C>A , CM000664.2:g.178618788C>A	GRCh38
NC_000002.11:g.179483515C>A , CM000664.1:g.179483515C>A	GRCh37
NC_000002.10:g.179191760C>A	NCBI36
NG_011618.3:g.217015G>T , LRG_391:g.217015G>T
NG_051363.1:g.100962C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39058G>T (TTN)	ENSP00000343764.6:p.Val13020Leu
ENST00000342175.11:c.20143G>T (TTN)	ENSP00000340554.6:p.Val6715Leu
ENST00000359218.10:c.19942G>T (TTN)	ENSP00000352154.5:p.Val6648Leu
ENST00000342175.10:c.20143G>T (TTN)	ENSP00000340554.6:p.Val6715Leu
ENST00000342992.10:c.39058G>T (TTN)	ENSP00000343764.6:p.Val13020Leu
ENST00000359218.9:c.19942G>T (TTN)	ENSP00000352154.5:p.Val6648Leu
ENST00000460472.6:c.19567G>T (TTN)	ENSP00000434586.1:p.Val6523Leu
ENST00000589042.5:c.46762G>T (TTN) MANE Select	ENSP00000467141.1:p.Val15588Leu
ENST00000591111.5:c.41839G>T (TTN)	ENSP00000465570.1:p.Val13947Leu
ENST00000615779.4:c.41839G>T (TTN)	ENSP00000483597.1:p.Val13947Leu
NM_001256850.1:c.41839G>T (TTN)	NP_001243779.1:p.Val13947Leu
NM_001267550.2:c.46762G>T (TTN) MANE Select	NP_001254479.2:p.Val15588Leu
NM_003319.4:c.19567G>T (TTN)	NP_003310.4:p.Val6523Leu
NM_133378.4:c.39058G>T (TTN)	NP_596869.4:p.Val13020Leu
NM_133432.3:c.19942G>T (TTN)	NP_597676.3:p.Val6648Leu
NM_133437.4:c.20143G>T (TTN)	NP_597681.4:p.Val6715Leu
NR_038271.1:n.1605-965C>A (TTN-AS1)
XM_011511729.1:c.45859G>T (TTN)	XP_011510031.1:p.Val15287Leu
XM_011511730.1:c.19753G>T (TTN)	XP_011510032.1:p.Val6585Leu
XM_011511731.1:c.19612G>T (TTN)	XP_011510033.1:p.Val6538Leu
XM_017004819.1:c.45655G>T (TTN)	XP_016860308.1:p.Val15219Leu
XM_017004820.1:c.41053G>T (TTN)	XP_016860309.1:p.Val13685Leu
XM_017004821.1:c.41050G>T (TTN)	XP_016860310.1:p.Val13684Leu
XM_017004822.1:c.38092G>T (TTN)	XP_016860311.1:p.Val12698Leu
XM_017004823.1:c.19708G>T (TTN)	XP_016860312.1:p.Val6570Leu
XM_024453094.1:c.41203G>T (TTN)	XP_024308862.1:p.Val13735Leu
XM_024453095.1:c.41200G>T (TTN)	XP_024308863.1:p.Val13734Leu
XM_024453096.1:c.40633G>T (TTN)	XP_024308864.1:p.Val13545Leu
XM_024453097.1:c.37975G>T (TTN)	XP_024308865.1:p.Val12659Leu
XM_024453098.1:c.37894G>T (TTN)	XP_024308866.1:p.Val12632Leu
XM_024453099.1:c.19657G>T (TTN)	XP_024308867.1:p.Val6553Leu
XM_024453100.1:c.9511G>T (TTN)	XP_024308868.1:p.Val3171Leu