Canonical Allele Identifier: CA349633085

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178571563G>A , CM000664.2:g.178571563G>A	GRCh38
NC_000002.11:g.179436290G>A , CM000664.1:g.179436290G>A	GRCh37
NC_000002.10:g.179144536G>A	NCBI36
NG_011618.3:g.264240C>T , LRG_391:g.264240C>T
NG_051363.1:g.53737G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.74569C>T (TTN) MANE Select	NP_001254479.2:p.Gln24857Ter
ENST00000589042.5:c.74569C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln24857Ter
NM_001256850.1:c.69646C>T (TTN)	NP_001243779.1:p.Gln23216Ter
NM_003319.4:c.47374C>T (TTN)	NP_003310.4:p.Gln15792Ter
NM_133378.4:c.66865C>T (TTN)	NP_596869.4:p.Gln22289Ter
NM_133432.3:c.47749C>T (TTN)	NP_597676.3:p.Gln15917Ter
NM_133437.4:c.47950C>T (TTN)	NP_597681.4:p.Gln15984Ter
NR_038271.1:n.596+114G>A (TTN-AS1)
NR_038272.1:n.2044-11009G>A (TTN-AS1)
ENST00000342175.10:c.47950C>T (TTN)	ENSP00000340554.6:p.Gln15984Ter
ENST00000342175.11:c.47950C>T (TTN)	ENSP00000340554.6:p.Gln15984Ter
ENST00000342992.10:c.66865C>T (TTN)	ENSP00000343764.6:p.Gln22289Ter
ENST00000342992.11:c.66865C>T (TTN)	ENSP00000343764.6:p.Gln22289Ter
ENST00000359218.10:c.47749C>T (TTN)	ENSP00000352154.5:p.Gln15917Ter
ENST00000359218.9:c.47749C>T (TTN)	ENSP00000352154.5:p.Gln15917Ter
ENST00000460472.6:c.47374C>T (TTN)	ENSP00000434586.1:p.Gln15792Ter
ENST00000591111.5:c.69646C>T (TTN)	ENSP00000465570.1:p.Gln23216Ter
ENST00000615779.4:c.69646C>T (TTN)	ENSP00000483597.1:p.Gln23216Ter
XM_011511729.1:c.73666C>T (TTN)	XP_011510031.1:p.Gln24556Ter
XM_011511730.1:c.47560C>T (TTN)	XP_011510032.1:p.Gln15854Ter
XM_011511731.1:c.47419C>T (TTN)	XP_011510033.1:p.Gln15807Ter
XM_017004819.1:c.73462C>T (TTN)	XP_016860308.1:p.Gln24488Ter
XM_017004820.1:c.68860C>T (TTN)	XP_016860309.1:p.Gln22954Ter
XM_017004821.1:c.68857C>T (TTN)	XP_016860310.1:p.Gln22953Ter
XM_017004822.1:c.65899C>T (TTN)	XP_016860311.1:p.Gln21967Ter
XM_017004823.1:c.47515C>T (TTN)	XP_016860312.1:p.Gln15839Ter
XM_024453094.1:c.69010C>T (TTN)	XP_024308862.1:p.Gln23004Ter
XM_024453095.1:c.69007C>T (TTN)	XP_024308863.1:p.Gln23003Ter
XM_024453096.1:c.68440C>T (TTN)	XP_024308864.1:p.Gln22814Ter
XM_024453097.1:c.65782C>T (TTN)	XP_024308865.1:p.Gln21928Ter
XM_024453098.1:c.65701C>T (TTN)	XP_024308866.1:p.Gln21901Ter
XM_024453099.1:c.47464C>T (TTN)	XP_024308867.1:p.Gln15822Ter
XM_024453100.1:c.37318C>T (TTN)	XP_024308868.1:p.Gln12440Ter