Canonical Allele Identifier: CA349427918

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402357T>A (hg19) ; chr2:g.178537630T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537630T>A , CM000664.2:g.178537630T>A	GRCh38
NC_000002.11:g.179402357T>A , CM000664.1:g.179402357T>A	GRCh37
NC_000002.10:g.179110603T>A	NCBI36
NG_011618.3:g.298173A>T , LRG_391:g.298173A>T
NG_051363.1:g.19804T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91873A>T (TTN)	ENSP00000343764.6:p.Thr30625Ser
ENST00000342175.11:c.72958A>T (TTN)	ENSP00000340554.6:p.Thr24320Ser
ENST00000359218.10:c.72757A>T (TTN)	ENSP00000352154.5:p.Thr24253Ser
ENST00000342175.10:c.72958A>T (TTN)	ENSP00000340554.6:p.Thr24320Ser
ENST00000342992.10:c.91873A>T (TTN)	ENSP00000343764.6:p.Thr30625Ser
ENST00000359218.9:c.72757A>T (TTN)	ENSP00000352154.5:p.Thr24253Ser
ENST00000460472.6:c.72382A>T (TTN)	ENSP00000434586.1:p.Thr24128Ser
ENST00000589042.5:c.99577A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr33193Ser
ENST00000591111.5:c.94654A>T (TTN)	ENSP00000465570.1:p.Thr31552Ser
ENST00000615779.4:c.94654A>T (TTN)	ENSP00000483597.1:p.Thr31552Ser
NM_001256850.1:c.94654A>T (TTN)	NP_001243779.1:p.Thr31552Ser
NM_001267550.2:c.99577A>T (TTN) MANE Select	NP_001254479.2:p.Thr33193Ser
NM_003319.4:c.72382A>T (TTN)	NP_003310.4:p.Thr24128Ser
NM_133378.4:c.91873A>T (TTN)	NP_596869.4:p.Thr30625Ser
NM_133432.3:c.72757A>T (TTN)	NP_597676.3:p.Thr24253Ser
NM_133437.4:c.72958A>T (TTN)	NP_597681.4:p.Thr24320Ser
NR_038271.1:n.446+13994T>A (TTN-AS1)
NR_038272.1:n.586T>A (TTN-AS1)
XM_011511729.1:c.98674A>T (TTN)	XP_011510031.1:p.Thr32892Ser
XM_011511730.1:c.72568A>T (TTN)	XP_011510032.1:p.Thr24190Ser
XM_011511731.1:c.72427A>T (TTN)	XP_011510033.1:p.Thr24143Ser
XM_017004819.1:c.98470A>T (TTN)	XP_016860308.1:p.Thr32824Ser
XM_017004820.1:c.93868A>T (TTN)	XP_016860309.1:p.Thr31290Ser
XM_017004821.1:c.93865A>T (TTN)	XP_016860310.1:p.Thr31289Ser
XM_017004822.1:c.90907A>T (TTN)	XP_016860311.1:p.Thr30303Ser
XM_017004823.1:c.72523A>T (TTN)	XP_016860312.1:p.Thr24175Ser
XM_024453094.1:c.94018A>T (TTN)	XP_024308862.1:p.Thr31340Ser
XM_024453095.1:c.94015A>T (TTN)	XP_024308863.1:p.Thr31339Ser
XM_024453096.1:c.93448A>T (TTN)	XP_024308864.1:p.Thr31150Ser
XM_024453097.1:c.90790A>T (TTN)	XP_024308865.1:p.Thr30264Ser
XM_024453098.1:c.90709A>T (TTN)	XP_024308866.1:p.Thr30237Ser
XM_024453099.1:c.72472A>T (TTN)	XP_024308867.1:p.Thr24158Ser
XM_024453100.1:c.62326A>T (TTN)	XP_024308868.1:p.Thr20776Ser