Canonical Allele Identifier: CA349624719

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435355A>T (hg19) ; chr2:g.178570628A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570628A>T , CM000664.2:g.178570628A>T	GRCh38
NC_000002.11:g.179435355A>T , CM000664.1:g.179435355A>T	GRCh37
NC_000002.10:g.179143601A>T	NCBI36
NG_011618.3:g.265175T>A , LRG_391:g.265175T>A
NG_051363.1:g.52802A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67800T>A (TTN)	ENSP00000343764.6:p.Ser22600Arg
ENST00000342175.11:c.48885T>A (TTN)	ENSP00000340554.6:p.Ser16295Arg
ENST00000359218.10:c.48684T>A (TTN)	ENSP00000352154.5:p.Ser16228Arg
ENST00000342175.10:c.48885T>A (TTN)	ENSP00000340554.6:p.Ser16295Arg
ENST00000342992.10:c.67800T>A (TTN)	ENSP00000343764.6:p.Ser22600Arg
ENST00000359218.9:c.48684T>A (TTN)	ENSP00000352154.5:p.Ser16228Arg
ENST00000460472.6:c.48309T>A (TTN)	ENSP00000434586.1:p.Ser16103Arg
ENST00000589042.5:c.75504T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser25168Arg
ENST00000591111.5:c.70581T>A (TTN)	ENSP00000465570.1:p.Ser23527Arg
ENST00000615779.4:c.70581T>A (TTN)	ENSP00000483597.1:p.Ser23527Arg
NM_001256850.1:c.70581T>A (TTN)	NP_001243779.1:p.Ser23527Arg
NM_001267550.2:c.75504T>A (TTN) MANE Select	NP_001254479.2:p.Ser25168Arg
NM_003319.4:c.48309T>A (TTN)	NP_003310.4:p.Ser16103Arg
NM_133378.4:c.67800T>A (TTN)	NP_596869.4:p.Ser22600Arg
NM_133432.3:c.48684T>A (TTN)	NP_597676.3:p.Ser16228Arg
NM_133437.4:c.48885T>A (TTN)	NP_597681.4:p.Ser16295Arg
NR_038271.1:n.447-672A>T (TTN-AS1)
NR_038272.1:n.2044-11944A>T (TTN-AS1)
XM_011511729.1:c.74601T>A (TTN)	XP_011510031.1:p.Ser24867Arg
XM_011511730.1:c.48495T>A (TTN)	XP_011510032.1:p.Ser16165Arg
XM_011511731.1:c.48354T>A (TTN)	XP_011510033.1:p.Ser16118Arg
XM_017004819.1:c.74397T>A (TTN)	XP_016860308.1:p.Ser24799Arg
XM_017004820.1:c.69795T>A (TTN)	XP_016860309.1:p.Ser23265Arg
XM_017004821.1:c.69792T>A (TTN)	XP_016860310.1:p.Ser23264Arg
XM_017004822.1:c.66834T>A (TTN)	XP_016860311.1:p.Ser22278Arg
XM_017004823.1:c.48450T>A (TTN)	XP_016860312.1:p.Ser16150Arg
XM_024453094.1:c.69945T>A (TTN)	XP_024308862.1:p.Ser23315Arg
XM_024453095.1:c.69942T>A (TTN)	XP_024308863.1:p.Ser23314Arg
XM_024453096.1:c.69375T>A (TTN)	XP_024308864.1:p.Ser23125Arg
XM_024453097.1:c.66717T>A (TTN)	XP_024308865.1:p.Ser22239Arg
XM_024453098.1:c.66636T>A (TTN)	XP_024308866.1:p.Ser22212Arg
XM_024453099.1:c.48399T>A (TTN)	XP_024308867.1:p.Ser16133Arg
XM_024453100.1:c.38253T>A (TTN)	XP_024308868.1:p.Ser12751Arg