Canonical Allele Identifier: CA349524843

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179419288T>A (hg19) ; chr2:g.178554561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178554561T>A , CM000664.2:g.178554561T>A	GRCh38
NC_000002.11:g.179419288T>A , CM000664.1:g.179419288T>A	GRCh37
NC_000002.10:g.179127534T>A	NCBI36
NG_011618.3:g.281242A>T , LRG_391:g.281242A>T
NG_051363.1:g.36735T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.81082A>T (TTN)	ENSP00000343764.6:p.Thr27028Ser
ENST00000342175.11:c.62167A>T (TTN)	ENSP00000340554.6:p.Thr20723Ser
ENST00000359218.10:c.61966A>T (TTN)	ENSP00000352154.5:p.Thr20656Ser
ENST00000342175.10:c.62167A>T (TTN)	ENSP00000340554.6:p.Thr20723Ser
ENST00000342992.10:c.81082A>T (TTN)	ENSP00000343764.6:p.Thr27028Ser
ENST00000359218.9:c.61966A>T (TTN)	ENSP00000352154.5:p.Thr20656Ser
ENST00000460472.6:c.61591A>T (TTN)	ENSP00000434586.1:p.Thr20531Ser
ENST00000589042.5:c.88786A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr29596Ser
ENST00000591111.5:c.83863A>T (TTN)	ENSP00000465570.1:p.Thr27955Ser
ENST00000615779.4:c.83863A>T (TTN)	ENSP00000483597.1:p.Thr27955Ser
NM_001256850.1:c.83863A>T (TTN)	NP_001243779.1:p.Thr27955Ser
NM_001267550.2:c.88786A>T (TTN) MANE Select	NP_001254479.2:p.Thr29596Ser
NM_003319.4:c.61591A>T (TTN)	NP_003310.4:p.Thr20531Ser
NM_133378.4:c.81082A>T (TTN)	NP_596869.4:p.Thr27028Ser
NM_133432.3:c.61966A>T (TTN)	NP_597676.3:p.Thr20656Ser
NM_133437.4:c.62167A>T (TTN)	NP_597681.4:p.Thr20723Ser
NR_038271.1:n.447-16739T>A (TTN-AS1)
NR_038272.1:n.2043+12200T>A (TTN-AS1)
XM_011511729.1:c.87883A>T (TTN)	XP_011510031.1:p.Thr29295Ser
XM_011511730.1:c.61777A>T (TTN)	XP_011510032.1:p.Thr20593Ser
XM_011511731.1:c.61636A>T (TTN)	XP_011510033.1:p.Thr20546Ser
XM_017004819.1:c.87679A>T (TTN)	XP_016860308.1:p.Thr29227Ser
XM_017004820.1:c.83077A>T (TTN)	XP_016860309.1:p.Thr27693Ser
XM_017004821.1:c.83074A>T (TTN)	XP_016860310.1:p.Thr27692Ser
XM_017004822.1:c.80116A>T (TTN)	XP_016860311.1:p.Thr26706Ser
XM_017004823.1:c.61732A>T (TTN)	XP_016860312.1:p.Thr20578Ser
XM_024453094.1:c.83227A>T (TTN)	XP_024308862.1:p.Thr27743Ser
XM_024453095.1:c.83224A>T (TTN)	XP_024308863.1:p.Thr27742Ser
XM_024453096.1:c.82657A>T (TTN)	XP_024308864.1:p.Thr27553Ser
XM_024453097.1:c.79999A>T (TTN)	XP_024308865.1:p.Thr26667Ser
XM_024453098.1:c.79918A>T (TTN)	XP_024308866.1:p.Thr26640Ser
XM_024453099.1:c.61681A>T (TTN)	XP_024308867.1:p.Thr20561Ser
XM_024453100.1:c.51535A>T (TTN)	XP_024308868.1:p.Thr17179Ser