Canonical Allele Identifier: CA349483811

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591146C>T , CM000664.2:g.178591146C>T	GRCh38
NC_000002.11:g.179455873C>T , CM000664.1:g.179455873C>T	GRCh37
NC_000002.10:g.179164119C>T	NCBI36
NG_011618.3:g.244657G>A , LRG_391:g.244657G>A
NG_051363.1:g.73320C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.60579G>A (TTN) MANE Select	NP_001254479.2:p.Trp20193Ter
ENST00000589042.5:c.60579G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp20193Ter
NM_001256850.1:c.55656G>A (TTN)	NP_001243779.1:p.Trp18552Ter
NM_003319.4:c.33384G>A (TTN)	NP_003310.4:p.Trp11128Ter
NM_133378.4:c.52875G>A (TTN)	NP_596869.4:p.Trp17625Ter
NM_133432.3:c.33759G>A (TTN)	NP_597676.3:p.Trp11253Ter
NM_133437.4:c.33960G>A (TTN)	NP_597681.4:p.Trp11320Ter
NR_038271.1:n.597-6450C>T (TTN-AS1)
NR_038272.1:n.3196C>T (TTN-AS1)
ENST00000342175.10:c.33960G>A (TTN)	ENSP00000340554.6:p.Trp11320Ter
ENST00000342175.11:c.33960G>A (TTN)	ENSP00000340554.6:p.Trp11320Ter
ENST00000342992.10:c.52875G>A (TTN)	ENSP00000343764.6:p.Trp17625Ter
ENST00000342992.11:c.52875G>A (TTN)	ENSP00000343764.6:p.Trp17625Ter
ENST00000359218.10:c.33759G>A (TTN)	ENSP00000352154.5:p.Trp11253Ter
ENST00000359218.9:c.33759G>A (TTN)	ENSP00000352154.5:p.Trp11253Ter
ENST00000460472.6:c.33384G>A (TTN)	ENSP00000434586.1:p.Trp11128Ter
ENST00000591111.5:c.55656G>A (TTN)	ENSP00000465570.1:p.Trp18552Ter
ENST00000615779.4:c.55656G>A (TTN)	ENSP00000483597.1:p.Trp18552Ter
XM_011511729.1:c.59676G>A (TTN)	XP_011510031.1:p.Trp19892Ter
XM_011511730.1:c.33570G>A (TTN)	XP_011510032.1:p.Trp11190Ter
XM_011511731.1:c.33429G>A (TTN)	XP_011510033.1:p.Trp11143Ter
XM_017004819.1:c.59472G>A (TTN)	XP_016860308.1:p.Trp19824Ter
XM_017004820.1:c.54870G>A (TTN)	XP_016860309.1:p.Trp18290Ter
XM_017004821.1:c.54867G>A (TTN)	XP_016860310.1:p.Trp18289Ter
XM_017004822.1:c.51909G>A (TTN)	XP_016860311.1:p.Trp17303Ter
XM_017004823.1:c.33525G>A (TTN)	XP_016860312.1:p.Trp11175Ter
XM_024453094.1:c.55020G>A (TTN)	XP_024308862.1:p.Trp18340Ter
XM_024453095.1:c.55017G>A (TTN)	XP_024308863.1:p.Trp18339Ter
XM_024453096.1:c.54450G>A (TTN)	XP_024308864.1:p.Trp18150Ter
XM_024453097.1:c.51792G>A (TTN)	XP_024308865.1:p.Trp17264Ter
XM_024453098.1:c.51711G>A (TTN)	XP_024308866.1:p.Trp17237Ter
XM_024453099.1:c.33474G>A (TTN)	XP_024308867.1:p.Trp11158Ter
XM_024453100.1:c.23328G>A (TTN)	XP_024308868.1:p.Trp7776Ter