Canonical Allele Identifier: CA349424677

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179445052G>C (hg19) ; chr2:g.178580325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178580325G>C , CM000664.2:g.178580325G>C	GRCh38
NC_000002.11:g.179445052G>C , CM000664.1:g.179445052G>C	GRCh37
NC_000002.10:g.179153298G>C	NCBI36
NG_011618.3:g.255478C>G , LRG_391:g.255478C>G
NG_051363.1:g.62499G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59350C>G (TTN)	ENSP00000343764.6:p.Leu19784Val
ENST00000342175.11:c.40435C>G (TTN)	ENSP00000340554.6:p.Leu13479Val
ENST00000359218.10:c.40234C>G (TTN)	ENSP00000352154.5:p.Leu13412Val
ENST00000342175.10:c.40435C>G (TTN)	ENSP00000340554.6:p.Leu13479Val
ENST00000342992.10:c.59350C>G (TTN)	ENSP00000343764.6:p.Leu19784Val
ENST00000359218.9:c.40234C>G (TTN)	ENSP00000352154.5:p.Leu13412Val
ENST00000460472.6:c.39859C>G (TTN)	ENSP00000434586.1:p.Leu13287Val
ENST00000589042.5:c.67054C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu22352Val
ENST00000591111.5:c.62131C>G (TTN)	ENSP00000465570.1:p.Leu20711Val
ENST00000615779.4:c.62131C>G (TTN)	ENSP00000483597.1:p.Leu20711Val
NM_001256850.1:c.62131C>G (TTN)	NP_001243779.1:p.Leu20711Val
NM_001267550.2:c.67054C>G (TTN) MANE Select	NP_001254479.2:p.Leu22352Val
NM_003319.4:c.39859C>G (TTN)	NP_003310.4:p.Leu13287Val
NM_133378.4:c.59350C>G (TTN)	NP_596869.4:p.Leu19784Val
NM_133432.3:c.40234C>G (TTN)	NP_597676.3:p.Leu13412Val
NM_133437.4:c.40435C>G (TTN)	NP_597681.4:p.Leu13479Val
NR_038271.1:n.596+8876G>C (TTN-AS1)
NR_038272.1:n.2044-2247G>C (TTN-AS1)
XM_011511729.1:c.66151C>G (TTN)	XP_011510031.1:p.Leu22051Val
XM_011511730.1:c.40045C>G (TTN)	XP_011510032.1:p.Leu13349Val
XM_011511731.1:c.39904C>G (TTN)	XP_011510033.1:p.Leu13302Val
XM_017004819.1:c.65947C>G (TTN)	XP_016860308.1:p.Leu21983Val
XM_017004820.1:c.61345C>G (TTN)	XP_016860309.1:p.Leu20449Val
XM_017004821.1:c.61342C>G (TTN)	XP_016860310.1:p.Leu20448Val
XM_017004822.1:c.58384C>G (TTN)	XP_016860311.1:p.Leu19462Val
XM_017004823.1:c.40000C>G (TTN)	XP_016860312.1:p.Leu13334Val
XM_024453094.1:c.61495C>G (TTN)	XP_024308862.1:p.Leu20499Val
XM_024453095.1:c.61492C>G (TTN)	XP_024308863.1:p.Leu20498Val
XM_024453096.1:c.60925C>G (TTN)	XP_024308864.1:p.Leu20309Val
XM_024453097.1:c.58267C>G (TTN)	XP_024308865.1:p.Leu19423Val
XM_024453098.1:c.58186C>G (TTN)	XP_024308866.1:p.Leu19396Val
XM_024453099.1:c.39949C>G (TTN)	XP_024308867.1:p.Leu13317Val
XM_024453100.1:c.29803C>G (TTN)	XP_024308868.1:p.Leu9935Val