Canonical Allele Identifier: CA349535655

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79840A>C (TTN)	ENSP00000343764.6:p.Thr26614Pro
ENST00000342175.11:c.60925A>C (TTN)	ENSP00000340554.6:p.Thr20309Pro
ENST00000359218.10:c.60724A>C (TTN)	ENSP00000352154.5:p.Thr20242Pro
ENST00000342175.10:c.60925A>C (TTN)	ENSP00000340554.6:p.Thr20309Pro
ENST00000342992.10:c.79840A>C (TTN)	ENSP00000343764.6:p.Thr26614Pro
ENST00000359218.9:c.60724A>C (TTN)	ENSP00000352154.5:p.Thr20242Pro
ENST00000460472.6:c.60349A>C (TTN)	ENSP00000434586.1:p.Thr20117Pro
ENST00000589042.5:c.87544A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr29182Pro
ENST00000591111.5:c.82621A>C (TTN)	ENSP00000465570.1:p.Thr27541Pro
ENST00000615779.4:c.82621A>C (TTN)	ENSP00000483597.1:p.Thr27541Pro
NM_001256850.1:c.82621A>C (TTN)	NP_001243779.1:p.Thr27541Pro
NM_001267550.2:c.87544A>C (TTN) MANE Select	NP_001254479.2:p.Thr29182Pro
NM_003319.4:c.60349A>C (TTN)	NP_003310.4:p.Thr20117Pro
NM_133378.4:c.79840A>C (TTN)	NP_596869.4:p.Thr26614Pro
NM_133432.3:c.60724A>C (TTN)	NP_597676.3:p.Thr20242Pro
NM_133437.4:c.60925A>C (TTN)	NP_597681.4:p.Thr20309Pro
NR_038271.1:n.447-13490T>G (TTN-AS1)
NR_038272.1:n.2043+15449T>G (TTN-AS1)
XM_011511729.1:c.86641A>C (TTN)	XP_011510031.1:p.Thr28881Pro
XM_011511730.1:c.60535A>C (TTN)	XP_011510032.1:p.Thr20179Pro
XM_011511731.1:c.60394A>C (TTN)	XP_011510033.1:p.Thr20132Pro
XM_017004819.1:c.86437A>C (TTN)	XP_016860308.1:p.Thr28813Pro
XM_017004820.1:c.81835A>C (TTN)	XP_016860309.1:p.Thr27279Pro
XM_017004821.1:c.81832A>C (TTN)	XP_016860310.1:p.Thr27278Pro
XM_017004822.1:c.78874A>C (TTN)	XP_016860311.1:p.Thr26292Pro
XM_017004823.1:c.60490A>C (TTN)	XP_016860312.1:p.Thr20164Pro
XM_024453094.1:c.81985A>C (TTN)	XP_024308862.1:p.Thr27329Pro
XM_024453095.1:c.81982A>C (TTN)	XP_024308863.1:p.Thr27328Pro
XM_024453096.1:c.81415A>C (TTN)	XP_024308864.1:p.Thr27139Pro
XM_024453097.1:c.78757A>C (TTN)	XP_024308865.1:p.Thr26253Pro
XM_024453098.1:c.78676A>C (TTN)	XP_024308866.1:p.Thr26226Pro
XM_024453099.1:c.60439A>C (TTN)	XP_024308867.1:p.Thr20147Pro
XM_024453100.1:c.50293A>C (TTN)	XP_024308868.1:p.Thr16765Pro