Canonical Allele Identifier: CA349494296

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457525G>A (hg19) ; chr2:g.178592798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592798G>A , CM000664.2:g.178592798G>A	GRCh38
NC_000002.11:g.179457525G>A , CM000664.1:g.179457525G>A	GRCh37
NC_000002.10:g.179165771G>A	NCBI36
NG_011618.3:g.243005C>T , LRG_391:g.243005C>T
NG_051363.1:g.74972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51617C>T (TTN)	ENSP00000343764.6:p.Pro17206Leu
ENST00000342175.11:c.32702C>T (TTN)	ENSP00000340554.6:p.Pro10901Leu
ENST00000359218.10:c.32501C>T (TTN)	ENSP00000352154.5:p.Pro10834Leu
ENST00000342175.10:c.32702C>T (TTN)	ENSP00000340554.6:p.Pro10901Leu
ENST00000342992.10:c.51617C>T (TTN)	ENSP00000343764.6:p.Pro17206Leu
ENST00000359218.9:c.32501C>T (TTN)	ENSP00000352154.5:p.Pro10834Leu
ENST00000460472.6:c.32126C>T (TTN)	ENSP00000434586.1:p.Pro10709Leu
ENST00000589042.5:c.59321C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19774Leu
ENST00000591111.5:c.54398C>T (TTN)	ENSP00000465570.1:p.Pro18133Leu
ENST00000615779.4:c.54398C>T (TTN)	ENSP00000483597.1:p.Pro18133Leu
NM_001256850.1:c.54398C>T (TTN)	NP_001243779.1:p.Pro18133Leu
NM_001267550.2:c.59321C>T (TTN) MANE Select	NP_001254479.2:p.Pro19774Leu
NM_003319.4:c.32126C>T (TTN)	NP_003310.4:p.Pro10709Leu
NM_133378.4:c.51617C>T (TTN)	NP_596869.4:p.Pro17206Leu
NM_133432.3:c.32501C>T (TTN)	NP_597676.3:p.Pro10834Leu
NM_133437.4:c.32702C>T (TTN)	NP_597681.4:p.Pro10901Leu
NR_038271.1:n.597-4798G>A (TTN-AS1)
NR_038272.1:n.3364+1484G>A (TTN-AS1)
XM_011511729.1:c.58418C>T (TTN)	XP_011510031.1:p.Pro19473Leu
XM_011511730.1:c.32312C>T (TTN)	XP_011510032.1:p.Pro10771Leu
XM_011511731.1:c.32171C>T (TTN)	XP_011510033.1:p.Pro10724Leu
XM_017004819.1:c.58214C>T (TTN)	XP_016860308.1:p.Pro19405Leu
XM_017004820.1:c.53612C>T (TTN)	XP_016860309.1:p.Pro17871Leu
XM_017004821.1:c.53609C>T (TTN)	XP_016860310.1:p.Pro17870Leu
XM_017004822.1:c.50651C>T (TTN)	XP_016860311.1:p.Pro16884Leu
XM_017004823.1:c.32267C>T (TTN)	XP_016860312.1:p.Pro10756Leu
XM_024453094.1:c.53762C>T (TTN)	XP_024308862.1:p.Pro17921Leu
XM_024453095.1:c.53759C>T (TTN)	XP_024308863.1:p.Pro17920Leu
XM_024453096.1:c.53192C>T (TTN)	XP_024308864.1:p.Pro17731Leu
XM_024453097.1:c.50534C>T (TTN)	XP_024308865.1:p.Pro16845Leu
XM_024453098.1:c.50453C>T (TTN)	XP_024308866.1:p.Pro16818Leu
XM_024453099.1:c.32216C>T (TTN)	XP_024308867.1:p.Pro10739Leu
XM_024453100.1:c.22070C>T (TTN)	XP_024308868.1:p.Pro7357Leu