Canonical Allele Identifier: CA1990643

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs757622611
• ExAC: 2:179439520 G / A
• gnomAD v2: 2-179439520-G-A
• gnomAD v3: 2-178574793-G-A
• gnomAD v4: 2-178574793-G-A
• MyVariant Identifiers: chr2:g.179439520G>A (hg19) ; chr2:g.178574793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574793G>A , CM000664.2:g.178574793G>A	GRCh38
NC_000002.11:g.179439520G>A , CM000664.1:g.179439520G>A	GRCh37
NC_000002.10:g.179147766G>A	NCBI36
NG_011618.3:g.261010C>T , LRG_391:g.261010C>T
NG_051363.1:g.56967G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63635C>T (TTN)	ENSP00000343764.6:p.Thr21212Ile
ENST00000342175.11:c.44720C>T (TTN)	ENSP00000340554.6:p.Thr14907Ile
ENST00000359218.10:c.44519C>T (TTN)	ENSP00000352154.5:p.Thr14840Ile
ENST00000342175.10:c.44720C>T (TTN)	ENSP00000340554.6:p.Thr14907Ile
ENST00000342992.10:c.63635C>T (TTN)	ENSP00000343764.6:p.Thr21212Ile
ENST00000359218.9:c.44519C>T (TTN)	ENSP00000352154.5:p.Thr14840Ile
ENST00000460472.6:c.44144C>T (TTN)	ENSP00000434586.1:p.Thr14715Ile
ENST00000589042.5:c.71339C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr23780Ile
ENST00000591111.5:c.66416C>T (TTN)	ENSP00000465570.1:p.Thr22139Ile
ENST00000615779.4:c.66416C>T (TTN)	ENSP00000483597.1:p.Thr22139Ile
NM_001256850.1:c.66416C>T (TTN)	NP_001243779.1:p.Thr22139Ile
NM_001267550.2:c.71339C>T (TTN) MANE Select	NP_001254479.2:p.Thr23780Ile
NM_003319.4:c.44144C>T (TTN)	NP_003310.4:p.Thr14715Ile
NM_133378.4:c.63635C>T (TTN)	NP_596869.4:p.Thr21212Ile
NM_133432.3:c.44519C>T (TTN)	NP_597676.3:p.Thr14840Ile
NM_133437.4:c.44720C>T (TTN)	NP_597681.4:p.Thr14907Ile
NR_038271.1:n.596+3344G>A (TTN-AS1)
NR_038272.1:n.2044-7779G>A (TTN-AS1)
XM_011511729.1:c.70436C>T (TTN)	XP_011510031.1:p.Thr23479Ile
XM_011511730.1:c.44330C>T (TTN)	XP_011510032.1:p.Thr14777Ile
XM_011511731.1:c.44189C>T (TTN)	XP_011510033.1:p.Thr14730Ile
XM_017004819.1:c.70232C>T (TTN)	XP_016860308.1:p.Thr23411Ile
XM_017004820.1:c.65630C>T (TTN)	XP_016860309.1:p.Thr21877Ile
XM_017004821.1:c.65627C>T (TTN)	XP_016860310.1:p.Thr21876Ile
XM_017004822.1:c.62669C>T (TTN)	XP_016860311.1:p.Thr20890Ile
XM_017004823.1:c.44285C>T (TTN)	XP_016860312.1:p.Thr14762Ile
XM_024453094.1:c.65780C>T (TTN)	XP_024308862.1:p.Thr21927Ile
XM_024453095.1:c.65777C>T (TTN)	XP_024308863.1:p.Thr21926Ile
XM_024453096.1:c.65210C>T (TTN)	XP_024308864.1:p.Thr21737Ile
XM_024453097.1:c.62552C>T (TTN)	XP_024308865.1:p.Thr20851Ile
XM_024453098.1:c.62471C>T (TTN)	XP_024308866.1:p.Thr20824Ile
XM_024453099.1:c.44234C>T (TTN)	XP_024308867.1:p.Thr14745Ile
XM_024453100.1:c.34088C>T (TTN)	XP_024308868.1:p.Thr11363Ile