Canonical Allele Identifier: CA349535652

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79840A>G (TTN)	ENSP00000343764.6:p.Thr26614Ala
ENST00000342175.11:c.60925A>G (TTN)	ENSP00000340554.6:p.Thr20309Ala
ENST00000359218.10:c.60724A>G (TTN)	ENSP00000352154.5:p.Thr20242Ala
ENST00000342175.10:c.60925A>G (TTN)	ENSP00000340554.6:p.Thr20309Ala
ENST00000342992.10:c.79840A>G (TTN)	ENSP00000343764.6:p.Thr26614Ala
ENST00000359218.9:c.60724A>G (TTN)	ENSP00000352154.5:p.Thr20242Ala
ENST00000460472.6:c.60349A>G (TTN)	ENSP00000434586.1:p.Thr20117Ala
ENST00000589042.5:c.87544A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr29182Ala
ENST00000591111.5:c.82621A>G (TTN)	ENSP00000465570.1:p.Thr27541Ala
ENST00000615779.4:c.82621A>G (TTN)	ENSP00000483597.1:p.Thr27541Ala
NM_001256850.1:c.82621A>G (TTN)	NP_001243779.1:p.Thr27541Ala
NM_001267550.2:c.87544A>G (TTN) MANE Select	NP_001254479.2:p.Thr29182Ala
NM_003319.4:c.60349A>G (TTN)	NP_003310.4:p.Thr20117Ala
NM_133378.4:c.79840A>G (TTN)	NP_596869.4:p.Thr26614Ala
NM_133432.3:c.60724A>G (TTN)	NP_597676.3:p.Thr20242Ala
NM_133437.4:c.60925A>G (TTN)	NP_597681.4:p.Thr20309Ala
NR_038271.1:n.447-13490T>C (TTN-AS1)
NR_038272.1:n.2043+15449T>C (TTN-AS1)
XM_011511729.1:c.86641A>G (TTN)	XP_011510031.1:p.Thr28881Ala
XM_011511730.1:c.60535A>G (TTN)	XP_011510032.1:p.Thr20179Ala
XM_011511731.1:c.60394A>G (TTN)	XP_011510033.1:p.Thr20132Ala
XM_017004819.1:c.86437A>G (TTN)	XP_016860308.1:p.Thr28813Ala
XM_017004820.1:c.81835A>G (TTN)	XP_016860309.1:p.Thr27279Ala
XM_017004821.1:c.81832A>G (TTN)	XP_016860310.1:p.Thr27278Ala
XM_017004822.1:c.78874A>G (TTN)	XP_016860311.1:p.Thr26292Ala
XM_017004823.1:c.60490A>G (TTN)	XP_016860312.1:p.Thr20164Ala
XM_024453094.1:c.81985A>G (TTN)	XP_024308862.1:p.Thr27329Ala
XM_024453095.1:c.81982A>G (TTN)	XP_024308863.1:p.Thr27328Ala
XM_024453096.1:c.81415A>G (TTN)	XP_024308864.1:p.Thr27139Ala
XM_024453097.1:c.78757A>G (TTN)	XP_024308865.1:p.Thr26253Ala
XM_024453098.1:c.78676A>G (TTN)	XP_024308866.1:p.Thr26226Ala
XM_024453099.1:c.60439A>G (TTN)	XP_024308867.1:p.Thr20147Ala
XM_024453100.1:c.50293A>G (TTN)	XP_024308868.1:p.Thr16765Ala