Canonical Allele Identifier: CA349411848

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5888722 ; COSM5888723 ; COSM5888724 ; COSM5888725
• MyVariant Identifiers: chr2:g.179396956C>T (hg19) ; chr2:g.178532229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532229C>T , CM000664.2:g.178532229C>T	GRCh38
NC_000002.11:g.179396956C>T , CM000664.1:g.179396956C>T	GRCh37
NC_000002.10:g.179105202C>T	NCBI36
NG_011618.3:g.303574G>A , LRG_391:g.303574G>A
NG_051363.1:g.14403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96682G>A (TTN)	ENSP00000343764.6:p.Glu32228Lys
ENST00000342175.11:c.77767G>A (TTN)	ENSP00000340554.6:p.Glu25923Lys
ENST00000359218.10:c.77566G>A (TTN)	ENSP00000352154.5:p.Glu25856Lys
ENST00000342175.10:c.77767G>A (TTN)	ENSP00000340554.6:p.Glu25923Lys
ENST00000342992.10:c.96682G>A (TTN)	ENSP00000343764.6:p.Glu32228Lys
ENST00000359218.9:c.77566G>A (TTN)	ENSP00000352154.5:p.Glu25856Lys
ENST00000460472.6:c.77191G>A (TTN)	ENSP00000434586.1:p.Glu25731Lys
ENST00000589042.5:c.104386G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu34796Lys
ENST00000591111.5:c.99463G>A (TTN)	ENSP00000465570.1:p.Glu33155Lys
ENST00000615779.4:c.99463G>A (TTN)	ENSP00000483597.1:p.Glu33155Lys
NM_001256850.1:c.99463G>A (TTN)	NP_001243779.1:p.Glu33155Lys
NM_001267550.2:c.104386G>A (TTN) MANE Select	NP_001254479.2:p.Glu34796Lys
NM_003319.4:c.77191G>A (TTN)	NP_003310.4:p.Glu25731Lys
NM_133378.4:c.96682G>A (TTN)	NP_596869.4:p.Glu32228Lys
NM_133432.3:c.77566G>A (TTN)	NP_597676.3:p.Glu25856Lys
NM_133437.4:c.77767G>A (TTN)	NP_597681.4:p.Glu25923Lys
NR_038271.1:n.446+8593C>T (TTN-AS1)
NR_038272.1:n.220-3503C>T (TTN-AS1)
XM_011511729.1:c.103483G>A (TTN)	XP_011510031.1:p.Glu34495Lys
XM_011511730.1:c.77377G>A (TTN)	XP_011510032.1:p.Glu25793Lys
XM_011511731.1:c.77236G>A (TTN)	XP_011510033.1:p.Glu25746Lys
XM_017004819.1:c.103279G>A (TTN)	XP_016860308.1:p.Glu34427Lys
XM_017004820.1:c.98677G>A (TTN)	XP_016860309.1:p.Glu32893Lys
XM_017004821.1:c.98674G>A (TTN)	XP_016860310.1:p.Glu32892Lys
XM_017004822.1:c.95716G>A (TTN)	XP_016860311.1:p.Glu31906Lys
XM_017004823.1:c.77332G>A (TTN)	XP_016860312.1:p.Glu25778Lys
XM_024453094.1:c.98827G>A (TTN)	XP_024308862.1:p.Glu32943Lys
XM_024453095.1:c.98824G>A (TTN)	XP_024308863.1:p.Glu32942Lys
XM_024453096.1:c.98257G>A (TTN)	XP_024308864.1:p.Glu32753Lys
XM_024453097.1:c.95599G>A (TTN)	XP_024308865.1:p.Glu31867Lys
XM_024453098.1:c.95518G>A (TTN)	XP_024308866.1:p.Glu31840Lys
XM_024453099.1:c.77281G>A (TTN)	XP_024308867.1:p.Glu25761Lys
XM_024453100.1:c.67135G>A (TTN)	XP_024308868.1:p.Glu22379Lys