Canonical Allele Identifier: CA349495668

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549785-T-A
• MyVariant Identifiers: chr2:g.179414512T>A (hg19) ; chr2:g.178549785T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549785T>A , CM000664.2:g.178549785T>A	GRCh38
NC_000002.11:g.179414512T>A , CM000664.1:g.179414512T>A	GRCh37
NC_000002.10:g.179122758T>A	NCBI36
NG_011618.3:g.286018A>T , LRG_391:g.286018A>T
NG_051363.1:g.31959T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84233A>T (TTN)	ENSP00000343764.6:p.Asn28078Ile
ENST00000342175.11:c.65318A>T (TTN)	ENSP00000340554.6:p.Asn21773Ile
ENST00000359218.10:c.65117A>T (TTN)	ENSP00000352154.5:p.Asn21706Ile
ENST00000342175.10:c.65318A>T (TTN)	ENSP00000340554.6:p.Asn21773Ile
ENST00000342992.10:c.84233A>T (TTN)	ENSP00000343764.6:p.Asn28078Ile
ENST00000359218.9:c.65117A>T (TTN)	ENSP00000352154.5:p.Asn21706Ile
ENST00000460472.6:c.64742A>T (TTN)	ENSP00000434586.1:p.Asn21581Ile
ENST00000589042.5:c.91937A>T (TTN) MANE Select	ENSP00000467141.1:p.Asn30646Ile
ENST00000591111.5:c.87014A>T (TTN)	ENSP00000465570.1:p.Asn29005Ile
ENST00000615779.4:c.87014A>T (TTN)	ENSP00000483597.1:p.Asn29005Ile
NM_001256850.1:c.87014A>T (TTN)	NP_001243779.1:p.Asn29005Ile
NM_001267550.2:c.91937A>T (TTN) MANE Select	NP_001254479.2:p.Asn30646Ile
NM_003319.4:c.64742A>T (TTN)	NP_003310.4:p.Asn21581Ile
NM_133378.4:c.84233A>T (TTN)	NP_596869.4:p.Asn28078Ile
NM_133432.3:c.65117A>T (TTN)	NP_597676.3:p.Asn21706Ile
NM_133437.4:c.65318A>T (TTN)	NP_597681.4:p.Asn21773Ile
NR_038271.1:n.447-21515T>A (TTN-AS1)
NR_038272.1:n.2043+7424T>A (TTN-AS1)
XM_011511729.1:c.91034A>T (TTN)	XP_011510031.1:p.Asn30345Ile
XM_011511730.1:c.64928A>T (TTN)	XP_011510032.1:p.Asn21643Ile
XM_011511731.1:c.64787A>T (TTN)	XP_011510033.1:p.Asn21596Ile
XM_017004819.1:c.90830A>T (TTN)	XP_016860308.1:p.Asn30277Ile
XM_017004820.1:c.86228A>T (TTN)	XP_016860309.1:p.Asn28743Ile
XM_017004821.1:c.86225A>T (TTN)	XP_016860310.1:p.Asn28742Ile
XM_017004822.1:c.83267A>T (TTN)	XP_016860311.1:p.Asn27756Ile
XM_017004823.1:c.64883A>T (TTN)	XP_016860312.1:p.Asn21628Ile
XM_024453094.1:c.86378A>T (TTN)	XP_024308862.1:p.Asn28793Ile
XM_024453095.1:c.86375A>T (TTN)	XP_024308863.1:p.Asn28792Ile
XM_024453096.1:c.85808A>T (TTN)	XP_024308864.1:p.Asn28603Ile
XM_024453097.1:c.83150A>T (TTN)	XP_024308865.1:p.Asn27717Ile
XM_024453098.1:c.83069A>T (TTN)	XP_024308866.1:p.Asn27690Ile
XM_024453099.1:c.64832A>T (TTN)	XP_024308867.1:p.Asn21611Ile
XM_024453100.1:c.54686A>T (TTN)	XP_024308868.1:p.Asn18229Ile