Canonical Allele Identifier: CA349544888

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1559281436
• MyVariant Identifiers: chr2:g.179424563C>T (hg19) ; chr2:g.178559836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559836C>T , CM000664.2:g.178559836C>T	GRCh38
NC_000002.11:g.179424563C>T , CM000664.1:g.179424563C>T	GRCh37
NC_000002.10:g.179132809C>T	NCBI36
NG_011618.3:g.275967G>A , LRG_391:g.275967G>A
NG_051363.1:g.42010C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78592G>A (TTN)	ENSP00000343764.6:p.Val26198Ile
ENST00000342175.11:c.59677G>A (TTN)	ENSP00000340554.6:p.Val19893Ile
ENST00000359218.10:c.59476G>A (TTN)	ENSP00000352154.5:p.Val19826Ile
ENST00000342175.10:c.59677G>A (TTN)	ENSP00000340554.6:p.Val19893Ile
ENST00000342992.10:c.78592G>A (TTN)	ENSP00000343764.6:p.Val26198Ile
ENST00000359218.9:c.59476G>A (TTN)	ENSP00000352154.5:p.Val19826Ile
ENST00000460472.6:c.59101G>A (TTN)	ENSP00000434586.1:p.Val19701Ile
ENST00000589042.5:c.86296G>A (TTN) MANE Select	ENSP00000467141.1:p.Val28766Ile
ENST00000591111.5:c.81373G>A (TTN)	ENSP00000465570.1:p.Val27125Ile
ENST00000615779.4:c.81373G>A (TTN)	ENSP00000483597.1:p.Val27125Ile
NM_001256850.1:c.81373G>A (TTN)	NP_001243779.1:p.Val27125Ile
NM_001267550.2:c.86296G>A (TTN) MANE Select	NP_001254479.2:p.Val28766Ile
NM_003319.4:c.59101G>A (TTN)	NP_003310.4:p.Val19701Ile
NM_133378.4:c.78592G>A (TTN)	NP_596869.4:p.Val26198Ile
NM_133432.3:c.59476G>A (TTN)	NP_597676.3:p.Val19826Ile
NM_133437.4:c.59677G>A (TTN)	NP_597681.4:p.Val19893Ile
NR_038271.1:n.447-11464C>T (TTN-AS1)
NR_038272.1:n.2043+17475C>T (TTN-AS1)
XM_011511729.1:c.85393G>A (TTN)	XP_011510031.1:p.Val28465Ile
XM_011511730.1:c.59287G>A (TTN)	XP_011510032.1:p.Val19763Ile
XM_011511731.1:c.59146G>A (TTN)	XP_011510033.1:p.Val19716Ile
XM_017004819.1:c.85189G>A (TTN)	XP_016860308.1:p.Val28397Ile
XM_017004820.1:c.80587G>A (TTN)	XP_016860309.1:p.Val26863Ile
XM_017004821.1:c.80584G>A (TTN)	XP_016860310.1:p.Val26862Ile
XM_017004822.1:c.77626G>A (TTN)	XP_016860311.1:p.Val25876Ile
XM_017004823.1:c.59242G>A (TTN)	XP_016860312.1:p.Val19748Ile
XM_024453094.1:c.80737G>A (TTN)	XP_024308862.1:p.Val26913Ile
XM_024453095.1:c.80734G>A (TTN)	XP_024308863.1:p.Val26912Ile
XM_024453096.1:c.80167G>A (TTN)	XP_024308864.1:p.Val26723Ile
XM_024453097.1:c.77509G>A (TTN)	XP_024308865.1:p.Val25837Ile
XM_024453098.1:c.77428G>A (TTN)	XP_024308866.1:p.Val25810Ile
XM_024453099.1:c.59191G>A (TTN)	XP_024308867.1:p.Val19731Ile
XM_024453100.1:c.49045G>A (TTN)	XP_024308868.1:p.Val16349Ile