Canonical Allele Identifier: CA1993587

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178603983C>T , CM000664.2:g.178603983C>T	GRCh38
NC_000002.11:g.179468710C>T , CM000664.1:g.179468710C>T	GRCh37
NC_000002.10:g.179176955C>T	NCBI36
NG_011618.3:g.231820G>A , LRG_391:g.231820G>A
NG_051363.1:g.86157C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.54704G>A (TTN) MANE Select	NP_001254479.2:p.Arg18235His
ENST00000589042.5:c.54704G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg18235His
NM_001256850.1:c.49781G>A (TTN)	NP_001243779.1:p.Arg16594His
NM_003319.4:c.27509G>A (TTN)	NP_003310.4:p.Arg9170His
NM_133378.4:c.47000G>A (TTN)	NP_596869.4:p.Arg15667His
NM_133432.3:c.27884G>A (TTN)	NP_597676.3:p.Arg9295His
NM_133437.4:c.28085G>A (TTN)	NP_597681.4:p.Arg9362His
NR_038271.1:n.683-4184C>T (TTN-AS1)
NR_038272.1:n.3918-748C>T (TTN-AS1)
ENST00000342175.10:c.28085G>A (TTN)	ENSP00000340554.6:p.Arg9362His
ENST00000342175.11:c.28085G>A (TTN)	ENSP00000340554.6:p.Arg9362His
ENST00000342992.10:c.47000G>A (TTN)	ENSP00000343764.6:p.Arg15667His
ENST00000342992.11:c.47000G>A (TTN)	ENSP00000343764.6:p.Arg15667His
ENST00000359218.10:c.27884G>A (TTN)	ENSP00000352154.5:p.Arg9295His
ENST00000359218.9:c.27884G>A (TTN)	ENSP00000352154.5:p.Arg9295His
ENST00000460472.6:c.27509G>A (TTN)	ENSP00000434586.1:p.Arg9170His
ENST00000591111.5:c.49781G>A (TTN)	ENSP00000465570.1:p.Arg16594His
ENST00000615779.4:c.49781G>A (TTN)	ENSP00000483597.1:p.Arg16594His
XM_011511729.1:c.53801G>A (TTN)	XP_011510031.1:p.Arg17934His
XM_011511730.1:c.27695G>A (TTN)	XP_011510032.1:p.Arg9232His
XM_011511731.1:c.27554G>A (TTN)	XP_011510033.1:p.Arg9185His
XM_017004819.1:c.53597G>A (TTN)	XP_016860308.1:p.Arg17866His
XM_017004820.1:c.48995G>A (TTN)	XP_016860309.1:p.Arg16332His
XM_017004821.1:c.48992G>A (TTN)	XP_016860310.1:p.Arg16331His
XM_017004822.1:c.46034G>A (TTN)	XP_016860311.1:p.Arg15345His
XM_017004823.1:c.27650G>A (TTN)	XP_016860312.1:p.Arg9217His
XM_024453094.1:c.49145G>A (TTN)	XP_024308862.1:p.Arg16382His
XM_024453095.1:c.49142G>A (TTN)	XP_024308863.1:p.Arg16381His
XM_024453096.1:c.48575G>A (TTN)	XP_024308864.1:p.Arg16192His
XM_024453097.1:c.45917G>A (TTN)	XP_024308865.1:p.Arg15306His
XM_024453098.1:c.45836G>A (TTN)	XP_024308866.1:p.Arg15279His
XM_024453099.1:c.27599G>A (TTN)	XP_024308867.1:p.Arg9200His
XM_024453100.1:c.17453G>A (TTN)	XP_024308868.1:p.Arg5818His