Canonical Allele Identifier: CA349478963

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412367G>A (hg19) ; chr2:g.178547640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547640G>A , CM000664.2:g.178547640G>A	GRCh38
NC_000002.11:g.179412367G>A , CM000664.1:g.179412367G>A	GRCh37
NC_000002.10:g.179120613G>A	NCBI36
NG_011618.3:g.288163C>T , LRG_391:g.288163C>T
NG_051363.1:g.29814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86282C>T (TTN)	ENSP00000343764.6:p.Ser28761Leu
ENST00000342175.11:c.67367C>T (TTN)	ENSP00000340554.6:p.Ser22456Leu
ENST00000359218.10:c.67166C>T (TTN)	ENSP00000352154.5:p.Ser22389Leu
ENST00000342175.10:c.67367C>T (TTN)	ENSP00000340554.6:p.Ser22456Leu
ENST00000342992.10:c.86282C>T (TTN)	ENSP00000343764.6:p.Ser28761Leu
ENST00000359218.9:c.67166C>T (TTN)	ENSP00000352154.5:p.Ser22389Leu
ENST00000460472.6:c.66791C>T (TTN)	ENSP00000434586.1:p.Ser22264Leu
ENST00000589042.5:c.93986C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser31329Leu
ENST00000591111.5:c.89063C>T (TTN)	ENSP00000465570.1:p.Ser29688Leu
ENST00000615779.4:c.89063C>T (TTN)	ENSP00000483597.1:p.Ser29688Leu
NM_001256850.1:c.89063C>T (TTN)	NP_001243779.1:p.Ser29688Leu
NM_001267550.2:c.93986C>T (TTN) MANE Select	NP_001254479.2:p.Ser31329Leu
NM_003319.4:c.66791C>T (TTN)	NP_003310.4:p.Ser22264Leu
NM_133378.4:c.86282C>T (TTN)	NP_596869.4:p.Ser28761Leu
NM_133432.3:c.67166C>T (TTN)	NP_597676.3:p.Ser22389Leu
NM_133437.4:c.67367C>T (TTN)	NP_597681.4:p.Ser22456Leu
NR_038271.1:n.447-23660G>A (TTN-AS1)
NR_038272.1:n.2043+5279G>A (TTN-AS1)
XM_011511729.1:c.93083C>T (TTN)	XP_011510031.1:p.Ser31028Leu
XM_011511730.1:c.66977C>T (TTN)	XP_011510032.1:p.Ser22326Leu
XM_011511731.1:c.66836C>T (TTN)	XP_011510033.1:p.Ser22279Leu
XM_017004819.1:c.92879C>T (TTN)	XP_016860308.1:p.Ser30960Leu
XM_017004820.1:c.88277C>T (TTN)	XP_016860309.1:p.Ser29426Leu
XM_017004821.1:c.88274C>T (TTN)	XP_016860310.1:p.Ser29425Leu
XM_017004822.1:c.85316C>T (TTN)	XP_016860311.1:p.Ser28439Leu
XM_017004823.1:c.66932C>T (TTN)	XP_016860312.1:p.Ser22311Leu
XM_024453094.1:c.88427C>T (TTN)	XP_024308862.1:p.Ser29476Leu
XM_024453095.1:c.88424C>T (TTN)	XP_024308863.1:p.Ser29475Leu
XM_024453096.1:c.87857C>T (TTN)	XP_024308864.1:p.Ser29286Leu
XM_024453097.1:c.85199C>T (TTN)	XP_024308865.1:p.Ser28400Leu
XM_024453098.1:c.85118C>T (TTN)	XP_024308866.1:p.Ser28373Leu
XM_024453099.1:c.66881C>T (TTN)	XP_024308867.1:p.Ser22294Leu
XM_024453100.1:c.56735C>T (TTN)	XP_024308868.1:p.Ser18912Leu