Canonical Allele Identifier: CA349608127

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178614846C>A , CM000664.2:g.178614846C>A	GRCh38
NC_000002.11:g.179479573C>A , CM000664.1:g.179479573C>A	GRCh37
NC_000002.10:g.179187818C>A	NCBI36
NG_011618.3:g.220957G>T , LRG_391:g.220957G>T
NG_051363.1:g.97020C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.48760+1G>T (TTN) MANE Select	NP_001254479.2:n.48760+1G>T
ENST00000589042.5:c.48760+1G>T (TTN) MANE Select	ENSP00000467141.1:n.48760+1G>T
NM_001256850.1:c.43837+1G>T (TTN)	NP_001243779.1:n.43837+1G>T
NM_003319.4:c.21565+1G>T (TTN)	NP_003310.4:n.21565+1G>T
NM_133378.4:c.41056+1G>T (TTN)	NP_596869.4:n.41056+1G>T
NM_133432.3:c.21940+1G>T (TTN)	NP_597676.3:n.21940+1G>T
NM_133437.4:c.22141+1G>T (TTN)	NP_597681.4:n.22141+1G>T
NR_038271.1:n.1552+42C>A (TTN-AS1)
ENST00000342175.10:c.22141+1G>T (TTN)	ENSP00000340554.6:n.22141+1G>T
ENST00000342175.11:c.22141+1G>T (TTN)	ENSP00000340554.6:n.22141+1G>T
ENST00000342992.10:c.41056+1G>T (TTN)	ENSP00000343764.6:n.41056+1G>T
ENST00000342992.11:c.41056+1G>T (TTN)	ENSP00000343764.6:n.41056+1G>T
ENST00000359218.10:c.21940+1G>T (TTN)	ENSP00000352154.5:n.21940+1G>T
ENST00000359218.9:c.21940+1G>T (TTN)	ENSP00000352154.5:n.21940+1G>T
ENST00000460472.6:c.21565+1G>T (TTN)	ENSP00000434586.1:n.21565+1G>T
ENST00000591111.5:c.43837+1G>T (TTN)	ENSP00000465570.1:n.43837+1G>T
ENST00000615779.4:c.43837+1G>T (TTN)	ENSP00000483597.1:n.43837+1G>T
XM_011511729.1:c.47857+1G>T (TTN)	XP_011510031.1:n.47857+1G>T
XM_011511730.1:c.21751+1G>T (TTN)	XP_011510032.1:n.21751+1G>T
XM_011511731.1:c.21610+1G>T (TTN)	XP_011510033.1:n.21610+1G>T
XM_017004819.1:c.47653+1G>T (TTN)	XP_016860308.1:n.47653+1G>T
XM_017004820.1:c.43051+1G>T (TTN)	XP_016860309.1:n.43051+1G>T
XM_017004821.1:c.43048+1G>T (TTN)	XP_016860310.1:n.43048+1G>T
XM_017004822.1:c.40090+1G>T (TTN)	XP_016860311.1:n.40090+1G>T
XM_017004823.1:c.21706+1G>T (TTN)	XP_016860312.1:n.21706+1G>T
XM_024453094.1:c.43201+1G>T (TTN)	XP_024308862.1:n.43201+1G>T
XM_024453095.1:c.43198+1G>T (TTN)	XP_024308863.1:n.43198+1G>T
XM_024453096.1:c.42631+1G>T (TTN)	XP_024308864.1:n.42631+1G>T
XM_024453097.1:c.39973+1G>T (TTN)	XP_024308865.1:n.39973+1G>T
XM_024453098.1:c.39892+1G>T (TTN)	XP_024308866.1:n.39892+1G>T
XM_024453099.1:c.21655+1G>T (TTN)	XP_024308867.1:n.21655+1G>T
XM_024453100.1:c.11509+1G>T (TTN)	XP_024308868.1:n.11509+1G>T