Canonical Allele Identifier: CA349406389

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395081C>A (hg19) ; chr2:g.178530354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530354C>A , CM000664.2:g.178530354C>A	GRCh38
NC_000002.11:g.179395081C>A , CM000664.1:g.179395081C>A	GRCh37
NC_000002.10:g.179103327C>A	NCBI36
NG_011618.3:g.305449G>T , LRG_391:g.305449G>T
NG_051363.1:g.12528C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98557G>T (TTN)	ENSP00000343764.6:p.Val32853Leu
ENST00000342175.11:c.79642G>T (TTN)	ENSP00000340554.6:p.Val26548Leu
ENST00000359218.10:c.79441G>T (TTN)	ENSP00000352154.5:p.Val26481Leu
ENST00000342175.10:c.79642G>T (TTN)	ENSP00000340554.6:p.Val26548Leu
ENST00000342992.10:c.98557G>T (TTN)	ENSP00000343764.6:p.Val32853Leu
ENST00000359218.9:c.79441G>T (TTN)	ENSP00000352154.5:p.Val26481Leu
ENST00000460472.6:c.79066G>T (TTN)	ENSP00000434586.1:p.Val26356Leu
ENST00000589042.5:c.106261G>T (TTN) MANE Select	ENSP00000467141.1:p.Val35421Leu
ENST00000591111.5:c.101338G>T (TTN)	ENSP00000465570.1:p.Val33780Leu
ENST00000615779.4:c.101338G>T (TTN)	ENSP00000483597.1:p.Val33780Leu
NM_001256850.1:c.101338G>T (TTN)	NP_001243779.1:p.Val33780Leu
NM_001267550.2:c.106261G>T (TTN) MANE Select	NP_001254479.2:p.Val35421Leu
NM_003319.4:c.79066G>T (TTN)	NP_003310.4:p.Val26356Leu
NM_133378.4:c.98557G>T (TTN)	NP_596869.4:p.Val32853Leu
NM_133432.3:c.79441G>T (TTN)	NP_597676.3:p.Val26481Leu
NM_133437.4:c.79642G>T (TTN)	NP_597681.4:p.Val26548Leu
NR_038271.1:n.446+6718C>A (TTN-AS1)
NR_038272.1:n.220-5378C>A (TTN-AS1)
XM_011511729.1:c.105358G>T (TTN)	XP_011510031.1:p.Val35120Leu
XM_011511730.1:c.79252G>T (TTN)	XP_011510032.1:p.Val26418Leu
XM_011511731.1:c.79111G>T (TTN)	XP_011510033.1:p.Val26371Leu
XM_017004819.1:c.105154G>T (TTN)	XP_016860308.1:p.Val35052Leu
XM_017004820.1:c.100552G>T (TTN)	XP_016860309.1:p.Val33518Leu
XM_017004821.1:c.100549G>T (TTN)	XP_016860310.1:p.Val33517Leu
XM_017004822.1:c.97591G>T (TTN)	XP_016860311.1:p.Val32531Leu
XM_017004823.1:c.79207G>T (TTN)	XP_016860312.1:p.Val26403Leu
XM_024453094.1:c.100702G>T (TTN)	XP_024308862.1:p.Val33568Leu
XM_024453095.1:c.100699G>T (TTN)	XP_024308863.1:p.Val33567Leu
XM_024453096.1:c.100132G>T (TTN)	XP_024308864.1:p.Val33378Leu
XM_024453097.1:c.97474G>T (TTN)	XP_024308865.1:p.Val32492Leu
XM_024453098.1:c.97393G>T (TTN)	XP_024308866.1:p.Val32465Leu
XM_024453099.1:c.79156G>T (TTN)	XP_024308867.1:p.Val26386Leu
XM_024453100.1:c.69010G>T (TTN)	XP_024308868.1:p.Val23004Leu