Canonical Allele Identifier: CA349488514

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456616G>A (hg19) ; chr2:g.178591889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591889G>A , CM000664.2:g.178591889G>A	GRCh38
NC_000002.11:g.179456616G>A , CM000664.1:g.179456616G>A	GRCh37
NC_000002.10:g.179164862G>A	NCBI36
NG_011618.3:g.243914C>T , LRG_391:g.243914C>T
NG_051363.1:g.74063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52226C>T (TTN)	ENSP00000343764.6:p.Pro17409Leu
ENST00000342175.11:c.33311C>T (TTN)	ENSP00000340554.6:p.Pro11104Leu
ENST00000359218.10:c.33110C>T (TTN)	ENSP00000352154.5:p.Pro11037Leu
ENST00000342175.10:c.33311C>T (TTN)	ENSP00000340554.6:p.Pro11104Leu
ENST00000342992.10:c.52226C>T (TTN)	ENSP00000343764.6:p.Pro17409Leu
ENST00000359218.9:c.33110C>T (TTN)	ENSP00000352154.5:p.Pro11037Leu
ENST00000460472.6:c.32735C>T (TTN)	ENSP00000434586.1:p.Pro10912Leu
ENST00000589042.5:c.59930C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19977Leu
ENST00000591111.5:c.55007C>T (TTN)	ENSP00000465570.1:p.Pro18336Leu
ENST00000615779.4:c.55007C>T (TTN)	ENSP00000483597.1:p.Pro18336Leu
NM_001256850.1:c.55007C>T (TTN)	NP_001243779.1:p.Pro18336Leu
NM_001267550.2:c.59930C>T (TTN) MANE Select	NP_001254479.2:p.Pro19977Leu
NM_003319.4:c.32735C>T (TTN)	NP_003310.4:p.Pro10912Leu
NM_133378.4:c.52226C>T (TTN)	NP_596869.4:p.Pro17409Leu
NM_133432.3:c.33110C>T (TTN)	NP_597676.3:p.Pro11037Leu
NM_133437.4:c.33311C>T (TTN)	NP_597681.4:p.Pro11104Leu
NR_038271.1:n.597-5707G>A (TTN-AS1)
NR_038272.1:n.3364+575G>A (TTN-AS1)
XM_011511729.1:c.59027C>T (TTN)	XP_011510031.1:p.Pro19676Leu
XM_011511730.1:c.32921C>T (TTN)	XP_011510032.1:p.Pro10974Leu
XM_011511731.1:c.32780C>T (TTN)	XP_011510033.1:p.Pro10927Leu
XM_017004819.1:c.58823C>T (TTN)	XP_016860308.1:p.Pro19608Leu
XM_017004820.1:c.54221C>T (TTN)	XP_016860309.1:p.Pro18074Leu
XM_017004821.1:c.54218C>T (TTN)	XP_016860310.1:p.Pro18073Leu
XM_017004822.1:c.51260C>T (TTN)	XP_016860311.1:p.Pro17087Leu
XM_017004823.1:c.32876C>T (TTN)	XP_016860312.1:p.Pro10959Leu
XM_024453094.1:c.54371C>T (TTN)	XP_024308862.1:p.Pro18124Leu
XM_024453095.1:c.54368C>T (TTN)	XP_024308863.1:p.Pro18123Leu
XM_024453096.1:c.53801C>T (TTN)	XP_024308864.1:p.Pro17934Leu
XM_024453097.1:c.51143C>T (TTN)	XP_024308865.1:p.Pro17048Leu
XM_024453098.1:c.51062C>T (TTN)	XP_024308866.1:p.Pro17021Leu
XM_024453099.1:c.32825C>T (TTN)	XP_024308867.1:p.Pro10942Leu
XM_024453100.1:c.22679C>T (TTN)	XP_024308868.1:p.Pro7560Leu