Canonical Allele Identifier: CA349605027

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2056813663
• MyVariant Identifiers: chr2:g.179478661G>A (hg19) ; chr2:g.178613934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613934G>A , CM000664.2:g.178613934G>A	GRCh38
NC_000002.11:g.179478661G>A , CM000664.1:g.179478661G>A	GRCh37
NC_000002.10:g.179186906G>A	NCBI36
NG_011618.3:g.221869C>T , LRG_391:g.221869C>T
NG_051363.1:g.96108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41645C>T (TTN)	ENSP00000343764.6:p.Pro13882Leu
ENST00000342175.11:c.22730C>T (TTN)	ENSP00000340554.6:p.Pro7577Leu
ENST00000359218.10:c.22529C>T (TTN)	ENSP00000352154.5:p.Pro7510Leu
ENST00000342175.10:c.22730C>T (TTN)	ENSP00000340554.6:p.Pro7577Leu
ENST00000342992.10:c.41645C>T (TTN)	ENSP00000343764.6:p.Pro13882Leu
ENST00000359218.9:c.22529C>T (TTN)	ENSP00000352154.5:p.Pro7510Leu
ENST00000460472.6:c.22154C>T (TTN)	ENSP00000434586.1:p.Pro7385Leu
ENST00000589042.5:c.49349C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro16450Leu
ENST00000591111.5:c.44426C>T (TTN)	ENSP00000465570.1:p.Pro14809Leu
ENST00000615779.4:c.44426C>T (TTN)	ENSP00000483597.1:p.Pro14809Leu
NM_001256850.1:c.44426C>T (TTN)	NP_001243779.1:p.Pro14809Leu
NM_001267550.2:c.49349C>T (TTN) MANE Select	NP_001254479.2:p.Pro16450Leu
NM_003319.4:c.22154C>T (TTN)	NP_003310.4:p.Pro7385Leu
NM_133378.4:c.41645C>T (TTN)	NP_596869.4:p.Pro13882Leu
NM_133432.3:c.22529C>T (TTN)	NP_597676.3:p.Pro7510Leu
NM_133437.4:c.22730C>T (TTN)	NP_597681.4:p.Pro7577Leu
NR_038271.1:n.783-101G>A (TTN-AS1)
XM_011511729.1:c.48446C>T (TTN)	XP_011510031.1:p.Pro16149Leu
XM_011511730.1:c.22340C>T (TTN)	XP_011510032.1:p.Pro7447Leu
XM_011511731.1:c.22199C>T (TTN)	XP_011510033.1:p.Pro7400Leu
XM_017004819.1:c.48242C>T (TTN)	XP_016860308.1:p.Pro16081Leu
XM_017004820.1:c.43640C>T (TTN)	XP_016860309.1:p.Pro14547Leu
XM_017004821.1:c.43637C>T (TTN)	XP_016860310.1:p.Pro14546Leu
XM_017004822.1:c.40679C>T (TTN)	XP_016860311.1:p.Pro13560Leu
XM_017004823.1:c.22295C>T (TTN)	XP_016860312.1:p.Pro7432Leu
XM_024453094.1:c.43790C>T (TTN)	XP_024308862.1:p.Pro14597Leu
XM_024453095.1:c.43787C>T (TTN)	XP_024308863.1:p.Pro14596Leu
XM_024453096.1:c.43220C>T (TTN)	XP_024308864.1:p.Pro14407Leu
XM_024453097.1:c.40562C>T (TTN)	XP_024308865.1:p.Pro13521Leu
XM_024453098.1:c.40481C>T (TTN)	XP_024308866.1:p.Pro13494Leu
XM_024453099.1:c.22244C>T (TTN)	XP_024308867.1:p.Pro7415Leu
XM_024453100.1:c.12098C>T (TTN)	XP_024308868.1:p.Pro4033Leu