Canonical Allele Identifier: CA310989

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 203017
• ClinVar RCV Id: RCV000227090 ; RCV000298510 ; RCV000315003 ; RCV000351155 ; RCV000398498 ; RCV000400495 ; RCV000765537 ; RCV001721172
• dbSNP Id: rs763270971
• ExAC: 2:179409083 C / T
• gnomAD v2: 2-179409083-C-T
• gnomAD v3: 2-178544356-C-T
• gnomAD v4: 2-178544356-C-T
• MyVariant Identifiers: chr2:g.179409083C>T (hg19) ; chr2:g.178544356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544356C>T , CM000664.2:g.178544356C>T	GRCh38
NC_000002.11:g.179409083C>T , CM000664.1:g.179409083C>T	GRCh37
NC_000002.10:g.179117329C>T	NCBI36
NG_011618.3:g.291447G>A , LRG_391:g.291447G>A
NG_051363.1:g.26530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88169G>A (TTN)	ENSP00000343764.6:p.Arg29390Gln
ENST00000342175.11:c.69254G>A (TTN)	ENSP00000340554.6:p.Arg23085Gln
ENST00000359218.10:c.69053G>A (TTN)	ENSP00000352154.5:p.Arg23018Gln
ENST00000342175.10:c.69254G>A (TTN)	ENSP00000340554.6:p.Arg23085Gln
ENST00000342992.10:c.88169G>A (TTN)	ENSP00000343764.6:p.Arg29390Gln
ENST00000359218.9:c.69053G>A (TTN)	ENSP00000352154.5:p.Arg23018Gln
ENST00000460472.6:c.68678G>A (TTN)	ENSP00000434586.1:p.Arg22893Gln
ENST00000589042.5:c.95873G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg31958Gln
ENST00000591111.5:c.90950G>A (TTN)	ENSP00000465570.1:p.Arg30317Gln
ENST00000615779.4:c.90950G>A (TTN)	ENSP00000483597.1:p.Arg30317Gln
NM_001256850.1:c.90950G>A (TTN)	NP_001243779.1:p.Arg30317Gln
NM_001267550.2:c.95873G>A (TTN) MANE Select	NP_001254479.2:p.Arg31958Gln
NM_003319.4:c.68678G>A (TTN)	NP_003310.4:p.Arg22893Gln
NM_133378.4:c.88169G>A (TTN)	NP_596869.4:p.Arg29390Gln
NM_133432.3:c.69053G>A (TTN)	NP_597676.3:p.Arg23018Gln
NM_133437.4:c.69254G>A (TTN)	NP_597681.4:p.Arg23085Gln
NR_038271.1:n.446+20720C>T (TTN-AS1)
NR_038272.1:n.2043+1995C>T (TTN-AS1)
XM_011511729.1:c.94970G>A (TTN)	XP_011510031.1:p.Arg31657Gln
XM_011511730.1:c.68864G>A (TTN)	XP_011510032.1:p.Arg22955Gln
XM_011511731.1:c.68723G>A (TTN)	XP_011510033.1:p.Arg22908Gln
XM_017004819.1:c.94766G>A (TTN)	XP_016860308.1:p.Arg31589Gln
XM_017004820.1:c.90164G>A (TTN)	XP_016860309.1:p.Arg30055Gln
XM_017004821.1:c.90161G>A (TTN)	XP_016860310.1:p.Arg30054Gln
XM_017004822.1:c.87203G>A (TTN)	XP_016860311.1:p.Arg29068Gln
XM_017004823.1:c.68819G>A (TTN)	XP_016860312.1:p.Arg22940Gln
XM_024453094.1:c.90314G>A (TTN)	XP_024308862.1:p.Arg30105Gln
XM_024453095.1:c.90311G>A (TTN)	XP_024308863.1:p.Arg30104Gln
XM_024453096.1:c.89744G>A (TTN)	XP_024308864.1:p.Arg29915Gln
XM_024453097.1:c.87086G>A (TTN)	XP_024308865.1:p.Arg29029Gln
XM_024453098.1:c.87005G>A (TTN)	XP_024308866.1:p.Arg29002Gln
XM_024453099.1:c.68768G>A (TTN)	XP_024308867.1:p.Arg22923Gln
XM_024453100.1:c.58622G>A (TTN)	XP_024308868.1:p.Arg19541Gln