Canonical Allele Identifier: CA349411400

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396782C>A (hg19) ; chr2:g.178532055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532055C>A , CM000664.2:g.178532055C>A	GRCh38
NC_000002.11:g.179396782C>A , CM000664.1:g.179396782C>A	GRCh37
NC_000002.10:g.179105028C>A	NCBI36
NG_011618.3:g.303748G>T , LRG_391:g.303748G>T
NG_051363.1:g.14229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96856G>T (TTN)	ENSP00000343764.6:p.Val32286Leu
ENST00000342175.11:c.77941G>T (TTN)	ENSP00000340554.6:p.Val25981Leu
ENST00000359218.10:c.77740G>T (TTN)	ENSP00000352154.5:p.Val25914Leu
ENST00000342175.10:c.77941G>T (TTN)	ENSP00000340554.6:p.Val25981Leu
ENST00000342992.10:c.96856G>T (TTN)	ENSP00000343764.6:p.Val32286Leu
ENST00000359218.9:c.77740G>T (TTN)	ENSP00000352154.5:p.Val25914Leu
ENST00000460472.6:c.77365G>T (TTN)	ENSP00000434586.1:p.Val25789Leu
ENST00000589042.5:c.104560G>T (TTN) MANE Select	ENSP00000467141.1:p.Val34854Leu
ENST00000591111.5:c.99637G>T (TTN)	ENSP00000465570.1:p.Val33213Leu
ENST00000615779.4:c.99637G>T (TTN)	ENSP00000483597.1:p.Val33213Leu
NM_001256850.1:c.99637G>T (TTN)	NP_001243779.1:p.Val33213Leu
NM_001267550.2:c.104560G>T (TTN) MANE Select	NP_001254479.2:p.Val34854Leu
NM_003319.4:c.77365G>T (TTN)	NP_003310.4:p.Val25789Leu
NM_133378.4:c.96856G>T (TTN)	NP_596869.4:p.Val32286Leu
NM_133432.3:c.77740G>T (TTN)	NP_597676.3:p.Val25914Leu
NM_133437.4:c.77941G>T (TTN)	NP_597681.4:p.Val25981Leu
NR_038271.1:n.446+8419C>A (TTN-AS1)
NR_038272.1:n.220-3677C>A (TTN-AS1)
XM_011511729.1:c.103657G>T (TTN)	XP_011510031.1:p.Val34553Leu
XM_011511730.1:c.77551G>T (TTN)	XP_011510032.1:p.Val25851Leu
XM_011511731.1:c.77410G>T (TTN)	XP_011510033.1:p.Val25804Leu
XM_017004819.1:c.103453G>T (TTN)	XP_016860308.1:p.Val34485Leu
XM_017004820.1:c.98851G>T (TTN)	XP_016860309.1:p.Val32951Leu
XM_017004821.1:c.98848G>T (TTN)	XP_016860310.1:p.Val32950Leu
XM_017004822.1:c.95890G>T (TTN)	XP_016860311.1:p.Val31964Leu
XM_017004823.1:c.77506G>T (TTN)	XP_016860312.1:p.Val25836Leu
XM_024453094.1:c.99001G>T (TTN)	XP_024308862.1:p.Val33001Leu
XM_024453095.1:c.98998G>T (TTN)	XP_024308863.1:p.Val33000Leu
XM_024453096.1:c.98431G>T (TTN)	XP_024308864.1:p.Val32811Leu
XM_024453097.1:c.95773G>T (TTN)	XP_024308865.1:p.Val31925Leu
XM_024453098.1:c.95692G>T (TTN)	XP_024308866.1:p.Val31898Leu
XM_024453099.1:c.77455G>T (TTN)	XP_024308867.1:p.Val25819Leu
XM_024453100.1:c.67309G>T (TTN)	XP_024308868.1:p.Val22437Leu