Canonical Allele Identifier: CA349544887

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1163426
• ClinVar RCV Id: RCV001508467
• dbSNP Id: rs1559281436
• MyVariant Identifiers: chr2:g.179424563C>G (hg19) ; chr2:g.178559836C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78592G>C (TTN)	ENSP00000343764.6:p.Val26198Leu
ENST00000342175.11:c.59677G>C (TTN)	ENSP00000340554.6:p.Val19893Leu
ENST00000359218.10:c.59476G>C (TTN)	ENSP00000352154.5:p.Val19826Leu
ENST00000342175.10:c.59677G>C (TTN)	ENSP00000340554.6:p.Val19893Leu
ENST00000342992.10:c.78592G>C (TTN)	ENSP00000343764.6:p.Val26198Leu
ENST00000359218.9:c.59476G>C (TTN)	ENSP00000352154.5:p.Val19826Leu
ENST00000460472.6:c.59101G>C (TTN)	ENSP00000434586.1:p.Val19701Leu
ENST00000589042.5:c.86296G>C (TTN) MANE Select	ENSP00000467141.1:p.Val28766Leu
ENST00000591111.5:c.81373G>C (TTN)	ENSP00000465570.1:p.Val27125Leu
ENST00000615779.4:c.81373G>C (TTN)	ENSP00000483597.1:p.Val27125Leu
NM_001256850.1:c.81373G>C (TTN)	NP_001243779.1:p.Val27125Leu
NM_001267550.2:c.86296G>C (TTN) MANE Select	NP_001254479.2:p.Val28766Leu
NM_003319.4:c.59101G>C (TTN)	NP_003310.4:p.Val19701Leu
NM_133378.4:c.78592G>C (TTN)	NP_596869.4:p.Val26198Leu
NM_133432.3:c.59476G>C (TTN)	NP_597676.3:p.Val19826Leu
NM_133437.4:c.59677G>C (TTN)	NP_597681.4:p.Val19893Leu
NR_038271.1:n.447-11464C>G (TTN-AS1)
NR_038272.1:n.2043+17475C>G (TTN-AS1)
XM_011511729.1:c.85393G>C (TTN)	XP_011510031.1:p.Val28465Leu
XM_011511730.1:c.59287G>C (TTN)	XP_011510032.1:p.Val19763Leu
XM_011511731.1:c.59146G>C (TTN)	XP_011510033.1:p.Val19716Leu
XM_017004819.1:c.85189G>C (TTN)	XP_016860308.1:p.Val28397Leu
XM_017004820.1:c.80587G>C (TTN)	XP_016860309.1:p.Val26863Leu
XM_017004821.1:c.80584G>C (TTN)	XP_016860310.1:p.Val26862Leu
XM_017004822.1:c.77626G>C (TTN)	XP_016860311.1:p.Val25876Leu
XM_017004823.1:c.59242G>C (TTN)	XP_016860312.1:p.Val19748Leu
XM_024453094.1:c.80737G>C (TTN)	XP_024308862.1:p.Val26913Leu
XM_024453095.1:c.80734G>C (TTN)	XP_024308863.1:p.Val26912Leu
XM_024453096.1:c.80167G>C (TTN)	XP_024308864.1:p.Val26723Leu
XM_024453097.1:c.77509G>C (TTN)	XP_024308865.1:p.Val25837Leu
XM_024453098.1:c.77428G>C (TTN)	XP_024308866.1:p.Val25810Leu
XM_024453099.1:c.59191G>C (TTN)	XP_024308867.1:p.Val19731Leu
XM_024453100.1:c.49045G>C (TTN)	XP_024308868.1:p.Val16349Leu