Canonical Allele Identifier: CA16617351

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 419714
• ClinVar RCV Id: RCV000481430 ; RCV003766674
• dbSNP Id: rs1064794060
• gnomAD v4: 2-178569854-C-T
• MyVariant Identifiers: chr2:g.179434581C>T (hg19) ; chr2:g.178569854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569854C>T , CM000664.2:g.178569854C>T	GRCh38
NC_000002.11:g.179434581C>T , CM000664.1:g.179434581C>T	GRCh37
NC_000002.10:g.179142827C>T	NCBI36
NG_011618.3:g.265949G>A , LRG_391:g.265949G>A
NG_051363.1:g.52028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68574G>A (TTN)	ENSP00000343764.6:p.Trp22858Ter
ENST00000342175.11:c.49659G>A (TTN)	ENSP00000340554.6:p.Trp16553Ter
ENST00000359218.10:c.49458G>A (TTN)	ENSP00000352154.5:p.Trp16486Ter
ENST00000342175.10:c.49659G>A (TTN)	ENSP00000340554.6:p.Trp16553Ter
ENST00000342992.10:c.68574G>A (TTN)	ENSP00000343764.6:p.Trp22858Ter
ENST00000359218.9:c.49458G>A (TTN)	ENSP00000352154.5:p.Trp16486Ter
ENST00000460472.6:c.49083G>A (TTN)	ENSP00000434586.1:p.Trp16361Ter
ENST00000589042.5:c.76278G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp25426Ter
ENST00000591111.5:c.71355G>A (TTN)	ENSP00000465570.1:p.Trp23785Ter
ENST00000615779.4:c.71355G>A (TTN)	ENSP00000483597.1:p.Trp23785Ter
NM_001256850.1:c.71355G>A (TTN)	NP_001243779.1:p.Trp23785Ter
NM_001267550.2:c.76278G>A (TTN) MANE Select	NP_001254479.2:p.Trp25426Ter
NM_003319.4:c.49083G>A (TTN)	NP_003310.4:p.Trp16361Ter
NM_133378.4:c.68574G>A (TTN)	NP_596869.4:p.Trp22858Ter
NM_133432.3:c.49458G>A (TTN)	NP_597676.3:p.Trp16486Ter
NM_133437.4:c.49659G>A (TTN)	NP_597681.4:p.Trp16553Ter
NR_038271.1:n.447-1446C>T (TTN-AS1)
NR_038272.1:n.2044-12718C>T (TTN-AS1)
XM_011511729.1:c.75375G>A (TTN)	XP_011510031.1:p.Trp25125Ter
XM_011511730.1:c.49269G>A (TTN)	XP_011510032.1:p.Trp16423Ter
XM_011511731.1:c.49128G>A (TTN)	XP_011510033.1:p.Trp16376Ter
XM_017004819.1:c.75171G>A (TTN)	XP_016860308.1:p.Trp25057Ter
XM_017004820.1:c.70569G>A (TTN)	XP_016860309.1:p.Trp23523Ter
XM_017004821.1:c.70566G>A (TTN)	XP_016860310.1:p.Trp23522Ter
XM_017004822.1:c.67608G>A (TTN)	XP_016860311.1:p.Trp22536Ter
XM_017004823.1:c.49224G>A (TTN)	XP_016860312.1:p.Trp16408Ter
XM_024453094.1:c.70719G>A (TTN)	XP_024308862.1:p.Trp23573Ter
XM_024453095.1:c.70716G>A (TTN)	XP_024308863.1:p.Trp23572Ter
XM_024453096.1:c.70149G>A (TTN)	XP_024308864.1:p.Trp23383Ter
XM_024453097.1:c.67491G>A (TTN)	XP_024308865.1:p.Trp22497Ter
XM_024453098.1:c.67410G>A (TTN)	XP_024308866.1:p.Trp22470Ter
XM_024453099.1:c.49173G>A (TTN)	XP_024308867.1:p.Trp16391Ter
XM_024453100.1:c.39027G>A (TTN)	XP_024308868.1:p.Trp13009Ter