Canonical Allele Identifier: CA349535057

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179422440G>A (hg19) ; chr2:g.178557713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557713G>A , CM000664.2:g.178557713G>A	GRCh38
NC_000002.11:g.179422440G>A , CM000664.1:g.179422440G>A	GRCh37
NC_000002.10:g.179130686G>A	NCBI36
NG_011618.3:g.278090C>T , LRG_391:g.278090C>T
NG_051363.1:g.39887G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79937C>T (TTN)	ENSP00000343764.6:p.Ala26646Val
ENST00000342175.11:c.61022C>T (TTN)	ENSP00000340554.6:p.Ala20341Val
ENST00000359218.10:c.60821C>T (TTN)	ENSP00000352154.5:p.Ala20274Val
ENST00000342175.10:c.61022C>T (TTN)	ENSP00000340554.6:p.Ala20341Val
ENST00000342992.10:c.79937C>T (TTN)	ENSP00000343764.6:p.Ala26646Val
ENST00000359218.9:c.60821C>T (TTN)	ENSP00000352154.5:p.Ala20274Val
ENST00000460472.6:c.60446C>T (TTN)	ENSP00000434586.1:p.Ala20149Val
ENST00000589042.5:c.87641C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala29214Val
ENST00000591111.5:c.82718C>T (TTN)	ENSP00000465570.1:p.Ala27573Val
ENST00000615779.4:c.82718C>T (TTN)	ENSP00000483597.1:p.Ala27573Val
NM_001256850.1:c.82718C>T (TTN)	NP_001243779.1:p.Ala27573Val
NM_001267550.2:c.87641C>T (TTN) MANE Select	NP_001254479.2:p.Ala29214Val
NM_003319.4:c.60446C>T (TTN)	NP_003310.4:p.Ala20149Val
NM_133378.4:c.79937C>T (TTN)	NP_596869.4:p.Ala26646Val
NM_133432.3:c.60821C>T (TTN)	NP_597676.3:p.Ala20274Val
NM_133437.4:c.61022C>T (TTN)	NP_597681.4:p.Ala20341Val
NR_038271.1:n.447-13587G>A (TTN-AS1)
NR_038272.1:n.2043+15352G>A (TTN-AS1)
XM_011511729.1:c.86738C>T (TTN)	XP_011510031.1:p.Ala28913Val
XM_011511730.1:c.60632C>T (TTN)	XP_011510032.1:p.Ala20211Val
XM_011511731.1:c.60491C>T (TTN)	XP_011510033.1:p.Ala20164Val
XM_017004819.1:c.86534C>T (TTN)	XP_016860308.1:p.Ala28845Val
XM_017004820.1:c.81932C>T (TTN)	XP_016860309.1:p.Ala27311Val
XM_017004821.1:c.81929C>T (TTN)	XP_016860310.1:p.Ala27310Val
XM_017004822.1:c.78971C>T (TTN)	XP_016860311.1:p.Ala26324Val
XM_017004823.1:c.60587C>T (TTN)	XP_016860312.1:p.Ala20196Val
XM_024453094.1:c.82082C>T (TTN)	XP_024308862.1:p.Ala27361Val
XM_024453095.1:c.82079C>T (TTN)	XP_024308863.1:p.Ala27360Val
XM_024453096.1:c.81512C>T (TTN)	XP_024308864.1:p.Ala27171Val
XM_024453097.1:c.78854C>T (TTN)	XP_024308865.1:p.Ala26285Val
XM_024453098.1:c.78773C>T (TTN)	XP_024308866.1:p.Ala26258Val
XM_024453099.1:c.60536C>T (TTN)	XP_024308867.1:p.Ala20179Val
XM_024453100.1:c.50390C>T (TTN)	XP_024308868.1:p.Ala16797Val