Canonical Allele Identifier: CA1985736

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs768158620
• ExAC: 2:179398785 G / A
• gnomAD v2: 2-179398785-G-A
• gnomAD v4: 2-178534058-G-A
• MyVariant Identifiers: chr2:g.179398785G>A (hg19) ; chr2:g.178534058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534058G>A , CM000664.2:g.178534058G>A	GRCh38
NC_000002.11:g.179398785G>A , CM000664.1:g.179398785G>A	GRCh37
NC_000002.10:g.179107031G>A	NCBI36
NG_011618.3:g.301745C>T , LRG_391:g.301745C>T
NG_051363.1:g.16232G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94853C>T (TTN)	ENSP00000343764.6:p.Thr31618Ile
ENST00000342175.11:c.75938C>T (TTN)	ENSP00000340554.6:p.Thr25313Ile
ENST00000359218.10:c.75737C>T (TTN)	ENSP00000352154.5:p.Thr25246Ile
ENST00000342175.10:c.75938C>T (TTN)	ENSP00000340554.6:p.Thr25313Ile
ENST00000342992.10:c.94853C>T (TTN)	ENSP00000343764.6:p.Thr31618Ile
ENST00000359218.9:c.75737C>T (TTN)	ENSP00000352154.5:p.Thr25246Ile
ENST00000460472.6:c.75362C>T (TTN)	ENSP00000434586.1:p.Thr25121Ile
ENST00000589042.5:c.102557C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr34186Ile
ENST00000591111.5:c.97634C>T (TTN)	ENSP00000465570.1:p.Thr32545Ile
ENST00000615779.4:c.97634C>T (TTN)	ENSP00000483597.1:p.Thr32545Ile
NM_001256850.1:c.97634C>T (TTN)	NP_001243779.1:p.Thr32545Ile
NM_001267550.2:c.102557C>T (TTN) MANE Select	NP_001254479.2:p.Thr34186Ile
NM_003319.4:c.75362C>T (TTN)	NP_003310.4:p.Thr25121Ile
NM_133378.4:c.94853C>T (TTN)	NP_596869.4:p.Thr31618Ile
NM_133432.3:c.75737C>T (TTN)	NP_597676.3:p.Thr25246Ile
NM_133437.4:c.75938C>T (TTN)	NP_597681.4:p.Thr25313Ile
NR_038271.1:n.446+10422G>A (TTN-AS1)
NR_038272.1:n.220-1674G>A (TTN-AS1)
XM_011511729.1:c.101654C>T (TTN)	XP_011510031.1:p.Thr33885Ile
XM_011511730.1:c.75548C>T (TTN)	XP_011510032.1:p.Thr25183Ile
XM_011511731.1:c.75407C>T (TTN)	XP_011510033.1:p.Thr25136Ile
XM_017004819.1:c.101450C>T (TTN)	XP_016860308.1:p.Thr33817Ile
XM_017004820.1:c.96848C>T (TTN)	XP_016860309.1:p.Thr32283Ile
XM_017004821.1:c.96845C>T (TTN)	XP_016860310.1:p.Thr32282Ile
XM_017004822.1:c.93887C>T (TTN)	XP_016860311.1:p.Thr31296Ile
XM_017004823.1:c.75503C>T (TTN)	XP_016860312.1:p.Thr25168Ile
XM_024453094.1:c.96998C>T (TTN)	XP_024308862.1:p.Thr32333Ile
XM_024453095.1:c.96995C>T (TTN)	XP_024308863.1:p.Thr32332Ile
XM_024453096.1:c.96428C>T (TTN)	XP_024308864.1:p.Thr32143Ile
XM_024453097.1:c.93770C>T (TTN)	XP_024308865.1:p.Thr31257Ile
XM_024453098.1:c.93689C>T (TTN)	XP_024308866.1:p.Thr31230Ile
XM_024453099.1:c.75452C>T (TTN)	XP_024308867.1:p.Thr25151Ile
XM_024453100.1:c.65306C>T (TTN)	XP_024308868.1:p.Thr21769Ile