Canonical Allele Identifier: CA1991385

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs776484491
• ExAC: 2:179445064 C / T
• gnomAD v2: 2-179445064-C-T
• gnomAD v3: 2-178580337-C-T
• gnomAD v4: 2-178580337-C-T
• MyVariant Identifiers: chr2:g.179445064C>T (hg19) ; chr2:g.178580337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178580337C>T , CM000664.2:g.178580337C>T	GRCh38
NC_000002.11:g.179445064C>T , CM000664.1:g.179445064C>T	GRCh37
NC_000002.10:g.179153310C>T	NCBI36
NG_011618.3:g.255466G>A , LRG_391:g.255466G>A
NG_051363.1:g.62511C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59338G>A (TTN)	ENSP00000343764.6:p.Val19780Ile
ENST00000342175.11:c.40423G>A (TTN)	ENSP00000340554.6:p.Val13475Ile
ENST00000359218.10:c.40222G>A (TTN)	ENSP00000352154.5:p.Val13408Ile
ENST00000342175.10:c.40423G>A (TTN)	ENSP00000340554.6:p.Val13475Ile
ENST00000342992.10:c.59338G>A (TTN)	ENSP00000343764.6:p.Val19780Ile
ENST00000359218.9:c.40222G>A (TTN)	ENSP00000352154.5:p.Val13408Ile
ENST00000460472.6:c.39847G>A (TTN)	ENSP00000434586.1:p.Val13283Ile
ENST00000589042.5:c.67042G>A (TTN) MANE Select	ENSP00000467141.1:p.Val22348Ile
ENST00000591111.5:c.62119G>A (TTN)	ENSP00000465570.1:p.Val20707Ile
ENST00000615779.4:c.62119G>A (TTN)	ENSP00000483597.1:p.Val20707Ile
NM_001256850.1:c.62119G>A (TTN)	NP_001243779.1:p.Val20707Ile
NM_001267550.2:c.67042G>A (TTN) MANE Select	NP_001254479.2:p.Val22348Ile
NM_003319.4:c.39847G>A (TTN)	NP_003310.4:p.Val13283Ile
NM_133378.4:c.59338G>A (TTN)	NP_596869.4:p.Val19780Ile
NM_133432.3:c.40222G>A (TTN)	NP_597676.3:p.Val13408Ile
NM_133437.4:c.40423G>A (TTN)	NP_597681.4:p.Val13475Ile
NR_038271.1:n.596+8888C>T (TTN-AS1)
NR_038272.1:n.2044-2235C>T (TTN-AS1)
XM_011511729.1:c.66139G>A (TTN)	XP_011510031.1:p.Val22047Ile
XM_011511730.1:c.40033G>A (TTN)	XP_011510032.1:p.Val13345Ile
XM_011511731.1:c.39892G>A (TTN)	XP_011510033.1:p.Val13298Ile
XM_017004819.1:c.65935G>A (TTN)	XP_016860308.1:p.Val21979Ile
XM_017004820.1:c.61333G>A (TTN)	XP_016860309.1:p.Val20445Ile
XM_017004821.1:c.61330G>A (TTN)	XP_016860310.1:p.Val20444Ile
XM_017004822.1:c.58372G>A (TTN)	XP_016860311.1:p.Val19458Ile
XM_017004823.1:c.39988G>A (TTN)	XP_016860312.1:p.Val13330Ile
XM_024453094.1:c.61483G>A (TTN)	XP_024308862.1:p.Val20495Ile
XM_024453095.1:c.61480G>A (TTN)	XP_024308863.1:p.Val20494Ile
XM_024453096.1:c.60913G>A (TTN)	XP_024308864.1:p.Val20305Ile
XM_024453097.1:c.58255G>A (TTN)	XP_024308865.1:p.Val19419Ile
XM_024453098.1:c.58174G>A (TTN)	XP_024308866.1:p.Val19392Ile
XM_024453099.1:c.39937G>A (TTN)	XP_024308867.1:p.Val13313Ile
XM_024453100.1:c.29791G>A (TTN)	XP_024308868.1:p.Val9931Ile