Canonical Allele Identifier: CA349535648

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179422537T>A (hg19) ; chr2:g.178557810T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557810T>A , CM000664.2:g.178557810T>A	GRCh38
NC_000002.11:g.179422537T>A , CM000664.1:g.179422537T>A	GRCh37
NC_000002.10:g.179130783T>A	NCBI36
NG_011618.3:g.277993A>T , LRG_391:g.277993A>T
NG_051363.1:g.39984T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79840A>T (TTN)	ENSP00000343764.6:p.Thr26614Ser
ENST00000342175.11:c.60925A>T (TTN)	ENSP00000340554.6:p.Thr20309Ser
ENST00000359218.10:c.60724A>T (TTN)	ENSP00000352154.5:p.Thr20242Ser
ENST00000342175.10:c.60925A>T (TTN)	ENSP00000340554.6:p.Thr20309Ser
ENST00000342992.10:c.79840A>T (TTN)	ENSP00000343764.6:p.Thr26614Ser
ENST00000359218.9:c.60724A>T (TTN)	ENSP00000352154.5:p.Thr20242Ser
ENST00000460472.6:c.60349A>T (TTN)	ENSP00000434586.1:p.Thr20117Ser
ENST00000589042.5:c.87544A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr29182Ser
ENST00000591111.5:c.82621A>T (TTN)	ENSP00000465570.1:p.Thr27541Ser
ENST00000615779.4:c.82621A>T (TTN)	ENSP00000483597.1:p.Thr27541Ser
NM_001256850.1:c.82621A>T (TTN)	NP_001243779.1:p.Thr27541Ser
NM_001267550.2:c.87544A>T (TTN) MANE Select	NP_001254479.2:p.Thr29182Ser
NM_003319.4:c.60349A>T (TTN)	NP_003310.4:p.Thr20117Ser
NM_133378.4:c.79840A>T (TTN)	NP_596869.4:p.Thr26614Ser
NM_133432.3:c.60724A>T (TTN)	NP_597676.3:p.Thr20242Ser
NM_133437.4:c.60925A>T (TTN)	NP_597681.4:p.Thr20309Ser
NR_038271.1:n.447-13490T>A (TTN-AS1)
NR_038272.1:n.2043+15449T>A (TTN-AS1)
XM_011511729.1:c.86641A>T (TTN)	XP_011510031.1:p.Thr28881Ser
XM_011511730.1:c.60535A>T (TTN)	XP_011510032.1:p.Thr20179Ser
XM_011511731.1:c.60394A>T (TTN)	XP_011510033.1:p.Thr20132Ser
XM_017004819.1:c.86437A>T (TTN)	XP_016860308.1:p.Thr28813Ser
XM_017004820.1:c.81835A>T (TTN)	XP_016860309.1:p.Thr27279Ser
XM_017004821.1:c.81832A>T (TTN)	XP_016860310.1:p.Thr27278Ser
XM_017004822.1:c.78874A>T (TTN)	XP_016860311.1:p.Thr26292Ser
XM_017004823.1:c.60490A>T (TTN)	XP_016860312.1:p.Thr20164Ser
XM_024453094.1:c.81985A>T (TTN)	XP_024308862.1:p.Thr27329Ser
XM_024453095.1:c.81982A>T (TTN)	XP_024308863.1:p.Thr27328Ser
XM_024453096.1:c.81415A>T (TTN)	XP_024308864.1:p.Thr27139Ser
XM_024453097.1:c.78757A>T (TTN)	XP_024308865.1:p.Thr26253Ser
XM_024453098.1:c.78676A>T (TTN)	XP_024308866.1:p.Thr26226Ser
XM_024453099.1:c.60439A>T (TTN)	XP_024308867.1:p.Thr20147Ser
XM_024453100.1:c.50293A>T (TTN)	XP_024308868.1:p.Thr16765Ser