Canonical Allele Identifier: CA349621031

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM402083 ; COSM402084 ; COSM402085
• MyVariant Identifiers: chr2:g.179435182C>A (hg19) ; chr2:g.178570455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570455C>A , CM000664.2:g.178570455C>A	GRCh38
NC_000002.11:g.179435182C>A , CM000664.1:g.179435182C>A	GRCh37
NC_000002.10:g.179143428C>A	NCBI36
NG_011618.3:g.265348G>T , LRG_391:g.265348G>T
NG_051363.1:g.52629C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67973G>T (TTN)	ENSP00000343764.6:p.Trp22658Leu
ENST00000342175.11:c.49058G>T (TTN)	ENSP00000340554.6:p.Trp16353Leu
ENST00000359218.10:c.48857G>T (TTN)	ENSP00000352154.5:p.Trp16286Leu
ENST00000342175.10:c.49058G>T (TTN)	ENSP00000340554.6:p.Trp16353Leu
ENST00000342992.10:c.67973G>T (TTN)	ENSP00000343764.6:p.Trp22658Leu
ENST00000359218.9:c.48857G>T (TTN)	ENSP00000352154.5:p.Trp16286Leu
ENST00000460472.6:c.48482G>T (TTN)	ENSP00000434586.1:p.Trp16161Leu
ENST00000589042.5:c.75677G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp25226Leu
ENST00000591111.5:c.70754G>T (TTN)	ENSP00000465570.1:p.Trp23585Leu
ENST00000615779.4:c.70754G>T (TTN)	ENSP00000483597.1:p.Trp23585Leu
NM_001256850.1:c.70754G>T (TTN)	NP_001243779.1:p.Trp23585Leu
NM_001267550.2:c.75677G>T (TTN) MANE Select	NP_001254479.2:p.Trp25226Leu
NM_003319.4:c.48482G>T (TTN)	NP_003310.4:p.Trp16161Leu
NM_133378.4:c.67973G>T (TTN)	NP_596869.4:p.Trp22658Leu
NM_133432.3:c.48857G>T (TTN)	NP_597676.3:p.Trp16286Leu
NM_133437.4:c.49058G>T (TTN)	NP_597681.4:p.Trp16353Leu
NR_038271.1:n.447-845C>A (TTN-AS1)
NR_038272.1:n.2044-12117C>A (TTN-AS1)
XM_011511729.1:c.74774G>T (TTN)	XP_011510031.1:p.Trp24925Leu
XM_011511730.1:c.48668G>T (TTN)	XP_011510032.1:p.Trp16223Leu
XM_011511731.1:c.48527G>T (TTN)	XP_011510033.1:p.Trp16176Leu
XM_017004819.1:c.74570G>T (TTN)	XP_016860308.1:p.Trp24857Leu
XM_017004820.1:c.69968G>T (TTN)	XP_016860309.1:p.Trp23323Leu
XM_017004821.1:c.69965G>T (TTN)	XP_016860310.1:p.Trp23322Leu
XM_017004822.1:c.67007G>T (TTN)	XP_016860311.1:p.Trp22336Leu
XM_017004823.1:c.48623G>T (TTN)	XP_016860312.1:p.Trp16208Leu
XM_024453094.1:c.70118G>T (TTN)	XP_024308862.1:p.Trp23373Leu
XM_024453095.1:c.70115G>T (TTN)	XP_024308863.1:p.Trp23372Leu
XM_024453096.1:c.69548G>T (TTN)	XP_024308864.1:p.Trp23183Leu
XM_024453097.1:c.66890G>T (TTN)	XP_024308865.1:p.Trp22297Leu
XM_024453098.1:c.66809G>T (TTN)	XP_024308866.1:p.Trp22270Leu
XM_024453099.1:c.48572G>T (TTN)	XP_024308867.1:p.Trp16191Leu
XM_024453100.1:c.38426G>T (TTN)	XP_024308868.1:p.Trp12809Leu