Canonical Allele Identifier: CA16617341

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 419359
• ClinVar RCV Id: RCV000482062 ; RCV000825632 ; RCV001851162
• dbSNP Id: rs1064793814
• gnomAD v4: 2-178559769-C-T
• MyVariant Identifiers: chr2:g.179424496C>T (hg19) ; chr2:g.178559769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559769C>T , CM000664.2:g.178559769C>T	GRCh38
NC_000002.11:g.179424496C>T , CM000664.1:g.179424496C>T	GRCh37
NC_000002.10:g.179132742C>T	NCBI36
NG_011618.3:g.276034G>A , LRG_391:g.276034G>A
NG_051363.1:g.41943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78659G>A (TTN)	ENSP00000343764.6:p.Trp26220Ter
ENST00000342175.11:c.59744G>A (TTN)	ENSP00000340554.6:p.Trp19915Ter
ENST00000359218.10:c.59543G>A (TTN)	ENSP00000352154.5:p.Trp19848Ter
ENST00000342175.10:c.59744G>A (TTN)	ENSP00000340554.6:p.Trp19915Ter
ENST00000342992.10:c.78659G>A (TTN)	ENSP00000343764.6:p.Trp26220Ter
ENST00000359218.9:c.59543G>A (TTN)	ENSP00000352154.5:p.Trp19848Ter
ENST00000460472.6:c.59168G>A (TTN)	ENSP00000434586.1:p.Trp19723Ter
ENST00000589042.5:c.86363G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp28788Ter
ENST00000591111.5:c.81440G>A (TTN)	ENSP00000465570.1:p.Trp27147Ter
ENST00000615779.4:c.81440G>A (TTN)	ENSP00000483597.1:p.Trp27147Ter
NM_001256850.1:c.81440G>A (TTN)	NP_001243779.1:p.Trp27147Ter
NM_001267550.2:c.86363G>A (TTN) MANE Select	NP_001254479.2:p.Trp28788Ter
NM_003319.4:c.59168G>A (TTN)	NP_003310.4:p.Trp19723Ter
NM_133378.4:c.78659G>A (TTN)	NP_596869.4:p.Trp26220Ter
NM_133432.3:c.59543G>A (TTN)	NP_597676.3:p.Trp19848Ter
NM_133437.4:c.59744G>A (TTN)	NP_597681.4:p.Trp19915Ter
NR_038271.1:n.447-11531C>T (TTN-AS1)
NR_038272.1:n.2043+17408C>T (TTN-AS1)
XM_011511729.1:c.85460G>A (TTN)	XP_011510031.1:p.Trp28487Ter
XM_011511730.1:c.59354G>A (TTN)	XP_011510032.1:p.Trp19785Ter
XM_011511731.1:c.59213G>A (TTN)	XP_011510033.1:p.Trp19738Ter
XM_017004819.1:c.85256G>A (TTN)	XP_016860308.1:p.Trp28419Ter
XM_017004820.1:c.80654G>A (TTN)	XP_016860309.1:p.Trp26885Ter
XM_017004821.1:c.80651G>A (TTN)	XP_016860310.1:p.Trp26884Ter
XM_017004822.1:c.77693G>A (TTN)	XP_016860311.1:p.Trp25898Ter
XM_017004823.1:c.59309G>A (TTN)	XP_016860312.1:p.Trp19770Ter
XM_024453094.1:c.80804G>A (TTN)	XP_024308862.1:p.Trp26935Ter
XM_024453095.1:c.80801G>A (TTN)	XP_024308863.1:p.Trp26934Ter
XM_024453096.1:c.80234G>A (TTN)	XP_024308864.1:p.Trp26745Ter
XM_024453097.1:c.77576G>A (TTN)	XP_024308865.1:p.Trp25859Ter
XM_024453098.1:c.77495G>A (TTN)	XP_024308866.1:p.Trp25832Ter
XM_024453099.1:c.59258G>A (TTN)	XP_024308867.1:p.Trp19753Ter
XM_024453100.1:c.49112G>A (TTN)	XP_024308868.1:p.Trp16371Ter