Canonical Allele Identifier: CA349488772

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456717A>C (hg19) ; chr2:g.178591990A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591990A>C , CM000664.2:g.178591990A>C	GRCh38
NC_000002.11:g.179456717A>C , CM000664.1:g.179456717A>C	GRCh37
NC_000002.10:g.179164963A>C	NCBI36
NG_011618.3:g.243813T>G , LRG_391:g.243813T>G
NG_051363.1:g.74164A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52210T>G (TTN)	ENSP00000343764.6:p.Leu17404Val
ENST00000342175.11:c.33295T>G (TTN)	ENSP00000340554.6:p.Leu11099Val
ENST00000359218.10:c.33094T>G (TTN)	ENSP00000352154.5:p.Leu11032Val
ENST00000342175.10:c.33295T>G (TTN)	ENSP00000340554.6:p.Leu11099Val
ENST00000342992.10:c.52210T>G (TTN)	ENSP00000343764.6:p.Leu17404Val
ENST00000359218.9:c.33094T>G (TTN)	ENSP00000352154.5:p.Leu11032Val
ENST00000460472.6:c.32719T>G (TTN)	ENSP00000434586.1:p.Leu10907Val
ENST00000589042.5:c.59914T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu19972Val
ENST00000591111.5:c.54991T>G (TTN)	ENSP00000465570.1:p.Leu18331Val
ENST00000615779.4:c.54991T>G (TTN)	ENSP00000483597.1:p.Leu18331Val
NM_001256850.1:c.54991T>G (TTN)	NP_001243779.1:p.Leu18331Val
NM_001267550.2:c.59914T>G (TTN) MANE Select	NP_001254479.2:p.Leu19972Val
NM_003319.4:c.32719T>G (TTN)	NP_003310.4:p.Leu10907Val
NM_133378.4:c.52210T>G (TTN)	NP_596869.4:p.Leu17404Val
NM_133432.3:c.33094T>G (TTN)	NP_597676.3:p.Leu11032Val
NM_133437.4:c.33295T>G (TTN)	NP_597681.4:p.Leu11099Val
NR_038271.1:n.597-5606A>C (TTN-AS1)
NR_038272.1:n.3364+676A>C (TTN-AS1)
XM_011511729.1:c.59011T>G (TTN)	XP_011510031.1:p.Leu19671Val
XM_011511730.1:c.32905T>G (TTN)	XP_011510032.1:p.Leu10969Val
XM_011511731.1:c.32764T>G (TTN)	XP_011510033.1:p.Leu10922Val
XM_017004819.1:c.58807T>G (TTN)	XP_016860308.1:p.Leu19603Val
XM_017004820.1:c.54205T>G (TTN)	XP_016860309.1:p.Leu18069Val
XM_017004821.1:c.54202T>G (TTN)	XP_016860310.1:p.Leu18068Val
XM_017004822.1:c.51244T>G (TTN)	XP_016860311.1:p.Leu17082Val
XM_017004823.1:c.32860T>G (TTN)	XP_016860312.1:p.Leu10954Val
XM_024453094.1:c.54355T>G (TTN)	XP_024308862.1:p.Leu18119Val
XM_024453095.1:c.54352T>G (TTN)	XP_024308863.1:p.Leu18118Val
XM_024453096.1:c.53785T>G (TTN)	XP_024308864.1:p.Leu17929Val
XM_024453097.1:c.51127T>G (TTN)	XP_024308865.1:p.Leu17043Val
XM_024453098.1:c.51046T>G (TTN)	XP_024308866.1:p.Leu17016Val
XM_024453099.1:c.32809T>G (TTN)	XP_024308867.1:p.Leu10937Val
XM_024453100.1:c.22663T>G (TTN)	XP_024308868.1:p.Leu7555Val