Canonical Allele Identifier: CA349471243

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411462A>C (hg19) ; chr2:g.178546735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546735A>C , CM000664.2:g.178546735A>C	GRCh38
NC_000002.11:g.179411462A>C , CM000664.1:g.179411462A>C	GRCh37
NC_000002.10:g.179119708A>C	NCBI36
NG_011618.3:g.289068T>G , LRG_391:g.289068T>G
NG_051363.1:g.28909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86989T>G (TTN)	ENSP00000343764.6:p.Ser28997Ala
ENST00000342175.11:c.68074T>G (TTN)	ENSP00000340554.6:p.Ser22692Ala
ENST00000359218.10:c.67873T>G (TTN)	ENSP00000352154.5:p.Ser22625Ala
ENST00000342175.10:c.68074T>G (TTN)	ENSP00000340554.6:p.Ser22692Ala
ENST00000342992.10:c.86989T>G (TTN)	ENSP00000343764.6:p.Ser28997Ala
ENST00000359218.9:c.67873T>G (TTN)	ENSP00000352154.5:p.Ser22625Ala
ENST00000460472.6:c.67498T>G (TTN)	ENSP00000434586.1:p.Ser22500Ala
ENST00000589042.5:c.94693T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser31565Ala
ENST00000591111.5:c.89770T>G (TTN)	ENSP00000465570.1:p.Ser29924Ala
ENST00000615779.4:c.89770T>G (TTN)	ENSP00000483597.1:p.Ser29924Ala
NM_001256850.1:c.89770T>G (TTN)	NP_001243779.1:p.Ser29924Ala
NM_001267550.2:c.94693T>G (TTN) MANE Select	NP_001254479.2:p.Ser31565Ala
NM_003319.4:c.67498T>G (TTN)	NP_003310.4:p.Ser22500Ala
NM_133378.4:c.86989T>G (TTN)	NP_596869.4:p.Ser28997Ala
NM_133432.3:c.67873T>G (TTN)	NP_597676.3:p.Ser22625Ala
NM_133437.4:c.68074T>G (TTN)	NP_597681.4:p.Ser22692Ala
NR_038271.1:n.446+23099A>C (TTN-AS1)
NR_038272.1:n.2043+4374A>C (TTN-AS1)
XM_011511729.1:c.93790T>G (TTN)	XP_011510031.1:p.Ser31264Ala
XM_011511730.1:c.67684T>G (TTN)	XP_011510032.1:p.Ser22562Ala
XM_011511731.1:c.67543T>G (TTN)	XP_011510033.1:p.Ser22515Ala
XM_017004819.1:c.93586T>G (TTN)	XP_016860308.1:p.Ser31196Ala
XM_017004820.1:c.88984T>G (TTN)	XP_016860309.1:p.Ser29662Ala
XM_017004821.1:c.88981T>G (TTN)	XP_016860310.1:p.Ser29661Ala
XM_017004822.1:c.86023T>G (TTN)	XP_016860311.1:p.Ser28675Ala
XM_017004823.1:c.67639T>G (TTN)	XP_016860312.1:p.Ser22547Ala
XM_024453094.1:c.89134T>G (TTN)	XP_024308862.1:p.Ser29712Ala
XM_024453095.1:c.89131T>G (TTN)	XP_024308863.1:p.Ser29711Ala
XM_024453096.1:c.88564T>G (TTN)	XP_024308864.1:p.Ser29522Ala
XM_024453097.1:c.85906T>G (TTN)	XP_024308865.1:p.Ser28636Ala
XM_024453098.1:c.85825T>G (TTN)	XP_024308866.1:p.Ser28609Ala
XM_024453099.1:c.67588T>G (TTN)	XP_024308867.1:p.Ser22530Ala
XM_024453100.1:c.57442T>G (TTN)	XP_024308868.1:p.Ser19148Ala