Canonical Allele Identifier: CA349426902

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401800T>G (hg19) ; chr2:g.178537073T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537073T>G , CM000664.2:g.178537073T>G	GRCh38
NC_000002.11:g.179401800T>G , CM000664.1:g.179401800T>G	GRCh37
NC_000002.10:g.179110046T>G	NCBI36
NG_011618.3:g.298730A>C , LRG_391:g.298730A>C
NG_051363.1:g.19247T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92332A>C (TTN)	ENSP00000343764.6:p.Ile30778Leu
ENST00000342175.11:c.73417A>C (TTN)	ENSP00000340554.6:p.Ile24473Leu
ENST00000359218.10:c.73216A>C (TTN)	ENSP00000352154.5:p.Ile24406Leu
ENST00000342175.10:c.73417A>C (TTN)	ENSP00000340554.6:p.Ile24473Leu
ENST00000342992.10:c.92332A>C (TTN)	ENSP00000343764.6:p.Ile30778Leu
ENST00000359218.9:c.73216A>C (TTN)	ENSP00000352154.5:p.Ile24406Leu
ENST00000460472.6:c.72841A>C (TTN)	ENSP00000434586.1:p.Ile24281Leu
ENST00000589042.5:c.100036A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile33346Leu
ENST00000591111.5:c.95113A>C (TTN)	ENSP00000465570.1:p.Ile31705Leu
ENST00000615779.4:c.95113A>C (TTN)	ENSP00000483597.1:p.Ile31705Leu
NM_001256850.1:c.95113A>C (TTN)	NP_001243779.1:p.Ile31705Leu
NM_001267550.2:c.100036A>C (TTN) MANE Select	NP_001254479.2:p.Ile33346Leu
NM_003319.4:c.72841A>C (TTN)	NP_003310.4:p.Ile24281Leu
NM_133378.4:c.92332A>C (TTN)	NP_596869.4:p.Ile30778Leu
NM_133432.3:c.73216A>C (TTN)	NP_597676.3:p.Ile24406Leu
NM_133437.4:c.73417A>C (TTN)	NP_597681.4:p.Ile24473Leu
NR_038271.1:n.446+13437T>G (TTN-AS1)
NR_038272.1:n.317-288T>G (TTN-AS1)
XM_011511729.1:c.99133A>C (TTN)	XP_011510031.1:p.Ile33045Leu
XM_011511730.1:c.73027A>C (TTN)	XP_011510032.1:p.Ile24343Leu
XM_011511731.1:c.72886A>C (TTN)	XP_011510033.1:p.Ile24296Leu
XM_017004819.1:c.98929A>C (TTN)	XP_016860308.1:p.Ile32977Leu
XM_017004820.1:c.94327A>C (TTN)	XP_016860309.1:p.Ile31443Leu
XM_017004821.1:c.94324A>C (TTN)	XP_016860310.1:p.Ile31442Leu
XM_017004822.1:c.91366A>C (TTN)	XP_016860311.1:p.Ile30456Leu
XM_017004823.1:c.72982A>C (TTN)	XP_016860312.1:p.Ile24328Leu
XM_024453094.1:c.94477A>C (TTN)	XP_024308862.1:p.Ile31493Leu
XM_024453095.1:c.94474A>C (TTN)	XP_024308863.1:p.Ile31492Leu
XM_024453096.1:c.93907A>C (TTN)	XP_024308864.1:p.Ile31303Leu
XM_024453097.1:c.91249A>C (TTN)	XP_024308865.1:p.Ile30417Leu
XM_024453098.1:c.91168A>C (TTN)	XP_024308866.1:p.Ile30390Leu
XM_024453099.1:c.72931A>C (TTN)	XP_024308867.1:p.Ile24311Leu
XM_024453100.1:c.62785A>C (TTN)	XP_024308868.1:p.Ile20929Leu