Canonical Allele Identifier: CA349535637

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178557807-C-T
• MyVariant Identifiers: chr2:g.179422534C>T (hg19) ; chr2:g.178557807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557807C>T , CM000664.2:g.178557807C>T	GRCh38
NC_000002.11:g.179422534C>T , CM000664.1:g.179422534C>T	GRCh37
NC_000002.10:g.179130780C>T	NCBI36
NG_011618.3:g.277996G>A , LRG_391:g.277996G>A
NG_051363.1:g.39981C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79843G>A (TTN)	ENSP00000343764.6:p.Ala26615Thr
ENST00000342175.11:c.60928G>A (TTN)	ENSP00000340554.6:p.Ala20310Thr
ENST00000359218.10:c.60727G>A (TTN)	ENSP00000352154.5:p.Ala20243Thr
ENST00000342175.10:c.60928G>A (TTN)	ENSP00000340554.6:p.Ala20310Thr
ENST00000342992.10:c.79843G>A (TTN)	ENSP00000343764.6:p.Ala26615Thr
ENST00000359218.9:c.60727G>A (TTN)	ENSP00000352154.5:p.Ala20243Thr
ENST00000460472.6:c.60352G>A (TTN)	ENSP00000434586.1:p.Ala20118Thr
ENST00000589042.5:c.87547G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala29183Thr
ENST00000591111.5:c.82624G>A (TTN)	ENSP00000465570.1:p.Ala27542Thr
ENST00000615779.4:c.82624G>A (TTN)	ENSP00000483597.1:p.Ala27542Thr
NM_001256850.1:c.82624G>A (TTN)	NP_001243779.1:p.Ala27542Thr
NM_001267550.2:c.87547G>A (TTN) MANE Select	NP_001254479.2:p.Ala29183Thr
NM_003319.4:c.60352G>A (TTN)	NP_003310.4:p.Ala20118Thr
NM_133378.4:c.79843G>A (TTN)	NP_596869.4:p.Ala26615Thr
NM_133432.3:c.60727G>A (TTN)	NP_597676.3:p.Ala20243Thr
NM_133437.4:c.60928G>A (TTN)	NP_597681.4:p.Ala20310Thr
NR_038271.1:n.447-13493C>T (TTN-AS1)
NR_038272.1:n.2043+15446C>T (TTN-AS1)
XM_011511729.1:c.86644G>A (TTN)	XP_011510031.1:p.Ala28882Thr
XM_011511730.1:c.60538G>A (TTN)	XP_011510032.1:p.Ala20180Thr
XM_011511731.1:c.60397G>A (TTN)	XP_011510033.1:p.Ala20133Thr
XM_017004819.1:c.86440G>A (TTN)	XP_016860308.1:p.Ala28814Thr
XM_017004820.1:c.81838G>A (TTN)	XP_016860309.1:p.Ala27280Thr
XM_017004821.1:c.81835G>A (TTN)	XP_016860310.1:p.Ala27279Thr
XM_017004822.1:c.78877G>A (TTN)	XP_016860311.1:p.Ala26293Thr
XM_017004823.1:c.60493G>A (TTN)	XP_016860312.1:p.Ala20165Thr
XM_024453094.1:c.81988G>A (TTN)	XP_024308862.1:p.Ala27330Thr
XM_024453095.1:c.81985G>A (TTN)	XP_024308863.1:p.Ala27329Thr
XM_024453096.1:c.81418G>A (TTN)	XP_024308864.1:p.Ala27140Thr
XM_024453097.1:c.78760G>A (TTN)	XP_024308865.1:p.Ala26254Thr
XM_024453098.1:c.78679G>A (TTN)	XP_024308866.1:p.Ala26227Thr
XM_024453099.1:c.60442G>A (TTN)	XP_024308867.1:p.Ala20148Thr
XM_024453100.1:c.50296G>A (TTN)	XP_024308868.1:p.Ala16766Thr