Canonical Allele Identifier: CA349398626

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391852T>A (hg19) ; chr2:g.178527125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527125T>A , CM000664.2:g.178527125T>A	GRCh38
NC_000002.11:g.179391852T>A , CM000664.1:g.179391852T>A	GRCh37
NC_000002.10:g.179100098T>A	NCBI36
NG_011618.3:g.308678A>T , LRG_391:g.308678A>T
NG_051363.1:g.9299T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100159A>T (TTN)	ENSP00000343764.6:p.Thr33387Ser
ENST00000342175.11:c.81244A>T (TTN)	ENSP00000340554.6:p.Thr27082Ser
ENST00000359218.10:c.81043A>T (TTN)	ENSP00000352154.5:p.Thr27015Ser
ENST00000342175.10:c.81244A>T (TTN)	ENSP00000340554.6:p.Thr27082Ser
ENST00000342992.10:c.100159A>T (TTN)	ENSP00000343764.6:p.Thr33387Ser
ENST00000359218.9:c.81043A>T (TTN)	ENSP00000352154.5:p.Thr27015Ser
ENST00000460472.6:c.80668A>T (TTN)	ENSP00000434586.1:p.Thr26890Ser
ENST00000589042.5:c.107863A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35955Ser
ENST00000591111.5:c.102940A>T (TTN)	ENSP00000465570.1:p.Thr34314Ser
ENST00000615779.4:c.102940A>T (TTN)	ENSP00000483597.1:p.Thr34314Ser
NM_001256850.1:c.102940A>T (TTN)	NP_001243779.1:p.Thr34314Ser
NM_001267550.2:c.107863A>T (TTN) MANE Select	NP_001254479.2:p.Thr35955Ser
NM_003319.4:c.80668A>T (TTN)	NP_003310.4:p.Thr26890Ser
NM_133378.4:c.100159A>T (TTN)	NP_596869.4:p.Thr33387Ser
NM_133432.3:c.81043A>T (TTN)	NP_597676.3:p.Thr27015Ser
NM_133437.4:c.81244A>T (TTN)	NP_597681.4:p.Thr27082Ser
NR_038271.1:n.446+3489T>A (TTN-AS1)
NR_038272.1:n.219+3489T>A (TTN-AS1)
XM_011511729.1:c.106960A>T (TTN)	XP_011510031.1:p.Thr35654Ser
XM_011511730.1:c.80854A>T (TTN)	XP_011510032.1:p.Thr26952Ser
XM_011511731.1:c.80713A>T (TTN)	XP_011510033.1:p.Thr26905Ser
XM_017004819.1:c.106756A>T (TTN)	XP_016860308.1:p.Thr35586Ser
XM_017004820.1:c.102154A>T (TTN)	XP_016860309.1:p.Thr34052Ser
XM_017004821.1:c.102151A>T (TTN)	XP_016860310.1:p.Thr34051Ser
XM_017004822.1:c.99193A>T (TTN)	XP_016860311.1:p.Thr33065Ser
XM_017004823.1:c.80809A>T (TTN)	XP_016860312.1:p.Thr26937Ser
XM_024453094.1:c.102304A>T (TTN)	XP_024308862.1:p.Thr34102Ser
XM_024453095.1:c.102301A>T (TTN)	XP_024308863.1:p.Thr34101Ser
XM_024453096.1:c.101734A>T (TTN)	XP_024308864.1:p.Thr33912Ser
XM_024453097.1:c.99076A>T (TTN)	XP_024308865.1:p.Thr33026Ser
XM_024453098.1:c.98995A>T (TTN)	XP_024308866.1:p.Thr32999Ser
XM_024453099.1:c.80758A>T (TTN)	XP_024308867.1:p.Thr26920Ser
XM_024453100.1:c.70612A>T (TTN)	XP_024308868.1:p.Thr23538Ser