Canonical Allele Identifier: CA349551983

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1703229481
• gnomAD v3: 2-178560526-G-T
• gnomAD v4: 2-178560526-G-T
• MyVariant Identifiers: chr2:g.179425253G>T (hg19) ; chr2:g.178560526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560526G>T , CM000664.2:g.178560526G>T	GRCh38
NC_000002.11:g.179425253G>T , CM000664.1:g.179425253G>T	GRCh37
NC_000002.10:g.179133499G>T	NCBI36
NG_011618.3:g.275277C>A , LRG_391:g.275277C>A
NG_051363.1:g.42700G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.77902C>A (TTN)	ENSP00000343764.6:p.Pro25968Thr
ENST00000342175.11:c.58987C>A (TTN)	ENSP00000340554.6:p.Pro19663Thr
ENST00000359218.10:c.58786C>A (TTN)	ENSP00000352154.5:p.Pro19596Thr
ENST00000342175.10:c.58987C>A (TTN)	ENSP00000340554.6:p.Pro19663Thr
ENST00000342992.10:c.77902C>A (TTN)	ENSP00000343764.6:p.Pro25968Thr
ENST00000359218.9:c.58786C>A (TTN)	ENSP00000352154.5:p.Pro19596Thr
ENST00000460472.6:c.58411C>A (TTN)	ENSP00000434586.1:p.Pro19471Thr
ENST00000589042.5:c.85606C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro28536Thr
ENST00000591111.5:c.80683C>A (TTN)	ENSP00000465570.1:p.Pro26895Thr
ENST00000615779.4:c.80683C>A (TTN)	ENSP00000483597.1:p.Pro26895Thr
NM_001256850.1:c.80683C>A (TTN)	NP_001243779.1:p.Pro26895Thr
NM_001267550.2:c.85606C>A (TTN) MANE Select	NP_001254479.2:p.Pro28536Thr
NM_003319.4:c.58411C>A (TTN)	NP_003310.4:p.Pro19471Thr
NM_133378.4:c.77902C>A (TTN)	NP_596869.4:p.Pro25968Thr
NM_133432.3:c.58786C>A (TTN)	NP_597676.3:p.Pro19596Thr
NM_133437.4:c.58987C>A (TTN)	NP_597681.4:p.Pro19663Thr
NR_038271.1:n.447-10774G>T (TTN-AS1)
NR_038272.1:n.2043+18165G>T (TTN-AS1)
XM_011511729.1:c.84703C>A (TTN)	XP_011510031.1:p.Pro28235Thr
XM_011511730.1:c.58597C>A (TTN)	XP_011510032.1:p.Pro19533Thr
XM_011511731.1:c.58456C>A (TTN)	XP_011510033.1:p.Pro19486Thr
XM_017004819.1:c.84499C>A (TTN)	XP_016860308.1:p.Pro28167Thr
XM_017004820.1:c.79897C>A (TTN)	XP_016860309.1:p.Pro26633Thr
XM_017004821.1:c.79894C>A (TTN)	XP_016860310.1:p.Pro26632Thr
XM_017004822.1:c.76936C>A (TTN)	XP_016860311.1:p.Pro25646Thr
XM_017004823.1:c.58552C>A (TTN)	XP_016860312.1:p.Pro19518Thr
XM_024453094.1:c.80047C>A (TTN)	XP_024308862.1:p.Pro26683Thr
XM_024453095.1:c.80044C>A (TTN)	XP_024308863.1:p.Pro26682Thr
XM_024453096.1:c.79477C>A (TTN)	XP_024308864.1:p.Pro26493Thr
XM_024453097.1:c.76819C>A (TTN)	XP_024308865.1:p.Pro25607Thr
XM_024453098.1:c.76738C>A (TTN)	XP_024308866.1:p.Pro25580Thr
XM_024453099.1:c.58501C>A (TTN)	XP_024308867.1:p.Pro19501Thr
XM_024453100.1:c.48355C>A (TTN)	XP_024308868.1:p.Pro16119Thr