Canonical Allele Identifier: CA309375

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202428
• ClinVar RCV Id: RCV000184286 ; RCV000217239 ; RCV001225100 ; RCV002372129
• dbSNP Id: rs112240298
• MyVariant Identifiers: chr2:g.179403672C>T (hg19) ; chr2:g.178538945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178538945C>T , CM000664.2:g.178538945C>T	GRCh38
NC_000002.11:g.179403672C>T , CM000664.1:g.179403672C>T	GRCh37
NC_000002.10:g.179111918C>T	NCBI36
NG_011618.3:g.296858G>A , LRG_391:g.296858G>A
NG_051363.1:g.21119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91285+1G>A (TTN)	ENSP00000343764.6:n.91285+1G>A
ENST00000342175.11:c.72370+1G>A (TTN)	ENSP00000340554.6:n.72370+1G>A
ENST00000359218.10:c.72169+1G>A (TTN)	ENSP00000352154.5:n.72169+1G>A
ENST00000342175.10:c.72370+1G>A (TTN)	ENSP00000340554.6:n.72370+1G>A
ENST00000342992.10:c.91285+1G>A (TTN)	ENSP00000343764.6:n.91285+1G>A
ENST00000359218.9:c.72169+1G>A (TTN)	ENSP00000352154.5:n.72169+1G>A
ENST00000460472.6:c.71794+1G>A (TTN)	ENSP00000434586.1:n.71794+1G>A
ENST00000589042.5:c.98989+1G>A (TTN) MANE Select	ENSP00000467141.1:n.98989+1G>A
ENST00000591111.5:c.94066+1G>A (TTN)	ENSP00000465570.1:n.94066+1G>A
ENST00000615779.4:c.94066+1G>A (TTN)	ENSP00000483597.1:n.94066+1G>A
NM_001256850.1:c.94066+1G>A (TTN)	NP_001243779.1:n.94066+1G>A
NM_001267550.2:c.98989+1G>A (TTN) MANE Select	NP_001254479.2:n.98989+1G>A
NM_003319.4:c.71794+1G>A (TTN)	NP_003310.4:n.71794+1G>A
NM_133378.4:c.91285+1G>A (TTN)	NP_596869.4:n.91285+1G>A
NM_133432.3:c.72169+1G>A (TTN)	NP_597676.3:n.72169+1G>A
NM_133437.4:c.72370+1G>A (TTN)	NP_597681.4:n.72370+1G>A
NR_038271.1:n.446+15309C>T (TTN-AS1)
NR_038272.1:n.895C>T (TTN-AS1)
XM_011511729.1:c.98086+1G>A (TTN)	XP_011510031.1:n.98086+1G>A
XM_011511730.1:c.71980+1G>A (TTN)	XP_011510032.1:n.71980+1G>A
XM_011511731.1:c.71839+1G>A (TTN)	XP_011510033.1:n.71839+1G>A
XM_017004819.1:c.97882+1G>A (TTN)	XP_016860308.1:n.97882+1G>A
XM_017004820.1:c.93280+1G>A (TTN)	XP_016860309.1:n.93280+1G>A
XM_017004821.1:c.93277+1G>A (TTN)	XP_016860310.1:n.93277+1G>A
XM_017004822.1:c.90319+1G>A (TTN)	XP_016860311.1:n.90319+1G>A
XM_017004823.1:c.71935+1G>A (TTN)	XP_016860312.1:n.71935+1G>A
XM_024453094.1:c.93430+1G>A (TTN)	XP_024308862.1:n.93430+1G>A
XM_024453095.1:c.93427+1G>A (TTN)	XP_024308863.1:n.93427+1G>A
XM_024453096.1:c.92860+1G>A (TTN)	XP_024308864.1:n.92860+1G>A
XM_024453097.1:c.90202+1G>A (TTN)	XP_024308865.1:n.90202+1G>A
XM_024453098.1:c.90121+1G>A (TTN)	XP_024308866.1:n.90121+1G>A
XM_024453099.1:c.71884+1G>A (TTN)	XP_024308867.1:n.71884+1G>A
XM_024453100.1:c.61738+1G>A (TTN)	XP_024308868.1:n.61738+1G>A