Canonical Allele Identifier: CA430234001

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391856C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527129C>A , CM000664.2:g.178527129C>A	GRCh38
NC_000002.11:g.179391856C>A , CM000664.1:g.179391856C>A	GRCh37
NC_000002.10:g.179100102C>A	NCBI36
NG_011618.3:g.308674G>T , LRG_391:g.308674G>T
NG_051363.1:g.9303C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100155G>T (TTN)	ENSP00000343764.6:p.Leu33385=
ENST00000342175.11:c.81240G>T (TTN)	ENSP00000340554.6:p.Leu27080=
ENST00000359218.10:c.81039G>T (TTN)	ENSP00000352154.5:p.Leu27013=
ENST00000342175.10:c.81240G>T (TTN)	ENSP00000340554.6:p.Leu27080=
ENST00000342992.10:c.100155G>T (TTN)	ENSP00000343764.6:p.Leu33385=
ENST00000359218.9:c.81039G>T (TTN)	ENSP00000352154.5:p.Leu27013=
ENST00000460472.6:c.80664G>T (TTN)	ENSP00000434586.1:p.Leu26888=
ENST00000589042.5:c.107859G>T (TTN) MANE Select	ENSP00000467141.1:p.Leu35953=
ENST00000591111.5:c.102936G>T (TTN)	ENSP00000465570.1:p.Leu34312=
ENST00000615779.4:c.102936G>T (TTN)	ENSP00000483597.1:p.Leu34312=
NM_001256850.1:c.102936G>T (TTN)	NP_001243779.1:p.Leu34312=
NM_001267550.2:c.107859G>T (TTN) MANE Select	NP_001254479.2:p.Leu35953=
NM_003319.4:c.80664G>T (TTN)	NP_003310.4:p.Leu26888=
NM_133378.4:c.100155G>T (TTN)	NP_596869.4:p.Leu33385=
NM_133432.3:c.81039G>T (TTN)	NP_597676.3:p.Leu27013=
NM_133437.4:c.81240G>T (TTN)	NP_597681.4:p.Leu27080=
NR_038271.1:n.446+3493C>A (TTN-AS1)
NR_038272.1:n.219+3493C>A (TTN-AS1)
XM_011511729.1:c.106956G>T (TTN)	XP_011510031.1:p.Leu35652=
XM_011511730.1:c.80850G>T (TTN)	XP_011510032.1:p.Leu26950=
XM_011511731.1:c.80709G>T (TTN)	XP_011510033.1:p.Leu26903=
XM_017004819.1:c.106752G>T (TTN)	XP_016860308.1:p.Leu35584=
XM_017004820.1:c.102150G>T (TTN)	XP_016860309.1:p.Leu34050=
XM_017004821.1:c.102147G>T (TTN)	XP_016860310.1:p.Leu34049=
XM_017004822.1:c.99189G>T (TTN)	XP_016860311.1:p.Leu33063=
XM_017004823.1:c.80805G>T (TTN)	XP_016860312.1:p.Leu26935=
XM_024453094.1:c.102300G>T (TTN)	XP_024308862.1:p.Leu34100=
XM_024453095.1:c.102297G>T (TTN)	XP_024308863.1:p.Leu34099=
XM_024453096.1:c.101730G>T (TTN)	XP_024308864.1:p.Leu33910=
XM_024453097.1:c.99072G>T (TTN)	XP_024308865.1:p.Leu33024=
XM_024453098.1:c.98991G>T (TTN)	XP_024308866.1:p.Leu32997=
XM_024453099.1:c.80754G>T (TTN)	XP_024308867.1:p.Leu26918=
XM_024453100.1:c.70608G>T (TTN)	XP_024308868.1:p.Leu23536=