Canonical Allele Identifier: CA349427720

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5677794 ; COSM5677795 ; COSM5677796 ; COSM5677797
• MyVariant Identifiers: chr2:g.179402264G>T (hg19) ; chr2:g.178537537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537537G>T , CM000664.2:g.178537537G>T	GRCh38
NC_000002.11:g.179402264G>T , CM000664.1:g.179402264G>T	GRCh37
NC_000002.10:g.179110510G>T	NCBI36
NG_011618.3:g.298266C>A , LRG_391:g.298266C>A
NG_051363.1:g.19711G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91966C>A (TTN)	ENSP00000343764.6:p.Pro30656Thr
ENST00000342175.11:c.73051C>A (TTN)	ENSP00000340554.6:p.Pro24351Thr
ENST00000359218.10:c.72850C>A (TTN)	ENSP00000352154.5:p.Pro24284Thr
ENST00000342175.10:c.73051C>A (TTN)	ENSP00000340554.6:p.Pro24351Thr
ENST00000342992.10:c.91966C>A (TTN)	ENSP00000343764.6:p.Pro30656Thr
ENST00000359218.9:c.72850C>A (TTN)	ENSP00000352154.5:p.Pro24284Thr
ENST00000460472.6:c.72475C>A (TTN)	ENSP00000434586.1:p.Pro24159Thr
ENST00000589042.5:c.99670C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro33224Thr
ENST00000591111.5:c.94747C>A (TTN)	ENSP00000465570.1:p.Pro31583Thr
ENST00000615779.4:c.94747C>A (TTN)	ENSP00000483597.1:p.Pro31583Thr
NM_001256850.1:c.94747C>A (TTN)	NP_001243779.1:p.Pro31583Thr
NM_001267550.2:c.99670C>A (TTN) MANE Select	NP_001254479.2:p.Pro33224Thr
NM_003319.4:c.72475C>A (TTN)	NP_003310.4:p.Pro24159Thr
NM_133378.4:c.91966C>A (TTN)	NP_596869.4:p.Pro30656Thr
NM_133432.3:c.72850C>A (TTN)	NP_597676.3:p.Pro24284Thr
NM_133437.4:c.73051C>A (TTN)	NP_597681.4:p.Pro24351Thr
NR_038271.1:n.446+13901G>T (TTN-AS1)
NR_038272.1:n.493G>T (TTN-AS1)
XM_011511729.1:c.98767C>A (TTN)	XP_011510031.1:p.Pro32923Thr
XM_011511730.1:c.72661C>A (TTN)	XP_011510032.1:p.Pro24221Thr
XM_011511731.1:c.72520C>A (TTN)	XP_011510033.1:p.Pro24174Thr
XM_017004819.1:c.98563C>A (TTN)	XP_016860308.1:p.Pro32855Thr
XM_017004820.1:c.93961C>A (TTN)	XP_016860309.1:p.Pro31321Thr
XM_017004821.1:c.93958C>A (TTN)	XP_016860310.1:p.Pro31320Thr
XM_017004822.1:c.91000C>A (TTN)	XP_016860311.1:p.Pro30334Thr
XM_017004823.1:c.72616C>A (TTN)	XP_016860312.1:p.Pro24206Thr
XM_024453094.1:c.94111C>A (TTN)	XP_024308862.1:p.Pro31371Thr
XM_024453095.1:c.94108C>A (TTN)	XP_024308863.1:p.Pro31370Thr
XM_024453096.1:c.93541C>A (TTN)	XP_024308864.1:p.Pro31181Thr
XM_024453097.1:c.90883C>A (TTN)	XP_024308865.1:p.Pro30295Thr
XM_024453098.1:c.90802C>A (TTN)	XP_024308866.1:p.Pro30268Thr
XM_024453099.1:c.72565C>A (TTN)	XP_024308867.1:p.Pro24189Thr
XM_024453100.1:c.62419C>A (TTN)	XP_024308868.1:p.Pro20807Thr