Canonical Allele Identifier: CA349451072

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1325699 ; COSM1325700 ; COSM1325701 ; COSM1325702
• MyVariant Identifiers: chr2:g.179408637G>C (hg19) ; chr2:g.178543910G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543910G>C , CM000664.2:g.178543910G>C	GRCh38
NC_000002.11:g.179408637G>C , CM000664.1:g.179408637G>C	GRCh37
NC_000002.10:g.179116883G>C	NCBI36
NG_011618.3:g.291893C>G , LRG_391:g.291893C>G
NG_051363.1:g.26084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88530C>G (TTN)	ENSP00000343764.6:p.Tyr29510Ter
ENST00000342175.11:c.69615C>G (TTN)	ENSP00000340554.6:p.Tyr23205Ter
ENST00000359218.10:c.69414C>G (TTN)	ENSP00000352154.5:p.Tyr23138Ter
ENST00000342175.10:c.69615C>G (TTN)	ENSP00000340554.6:p.Tyr23205Ter
ENST00000342992.10:c.88530C>G (TTN)	ENSP00000343764.6:p.Tyr29510Ter
ENST00000359218.9:c.69414C>G (TTN)	ENSP00000352154.5:p.Tyr23138Ter
ENST00000460472.6:c.69039C>G (TTN)	ENSP00000434586.1:p.Tyr23013Ter
ENST00000589042.5:c.96234C>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr32078Ter
ENST00000591111.5:c.91311C>G (TTN)	ENSP00000465570.1:p.Tyr30437Ter
ENST00000615779.4:c.91311C>G (TTN)	ENSP00000483597.1:p.Tyr30437Ter
NM_001256850.1:c.91311C>G (TTN)	NP_001243779.1:p.Tyr30437Ter
NM_001267550.2:c.96234C>G (TTN) MANE Select	NP_001254479.2:p.Tyr32078Ter
NM_003319.4:c.69039C>G (TTN)	NP_003310.4:p.Tyr23013Ter
NM_133378.4:c.88530C>G (TTN)	NP_596869.4:p.Tyr29510Ter
NM_133432.3:c.69414C>G (TTN)	NP_597676.3:p.Tyr23138Ter
NM_133437.4:c.69615C>G (TTN)	NP_597681.4:p.Tyr23205Ter
NR_038271.1:n.446+20274G>C (TTN-AS1)
NR_038272.1:n.2043+1549G>C (TTN-AS1)
XM_011511729.1:c.95331C>G (TTN)	XP_011510031.1:p.Tyr31777Ter
XM_011511730.1:c.69225C>G (TTN)	XP_011510032.1:p.Tyr23075Ter
XM_011511731.1:c.69084C>G (TTN)	XP_011510033.1:p.Tyr23028Ter
XM_017004819.1:c.95127C>G (TTN)	XP_016860308.1:p.Tyr31709Ter
XM_017004820.1:c.90525C>G (TTN)	XP_016860309.1:p.Tyr30175Ter
XM_017004821.1:c.90522C>G (TTN)	XP_016860310.1:p.Tyr30174Ter
XM_017004822.1:c.87564C>G (TTN)	XP_016860311.1:p.Tyr29188Ter
XM_017004823.1:c.69180C>G (TTN)	XP_016860312.1:p.Tyr23060Ter
XM_024453094.1:c.90675C>G (TTN)	XP_024308862.1:p.Tyr30225Ter
XM_024453095.1:c.90672C>G (TTN)	XP_024308863.1:p.Tyr30224Ter
XM_024453096.1:c.90105C>G (TTN)	XP_024308864.1:p.Tyr30035Ter
XM_024453097.1:c.87447C>G (TTN)	XP_024308865.1:p.Tyr29149Ter
XM_024453098.1:c.87366C>G (TTN)	XP_024308866.1:p.Tyr29122Ter
XM_024453099.1:c.69129C>G (TTN)	XP_024308867.1:p.Tyr23043Ter
XM_024453100.1:c.58983C>G (TTN)	XP_024308868.1:p.Tyr19661Ter