Canonical Allele Identifier: CA349405308

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394788A>G (hg19) ; chr2:g.178530061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530061A>G , CM000664.2:g.178530061A>G	GRCh38
NC_000002.11:g.179394788A>G , CM000664.1:g.179394788A>G	GRCh37
NC_000002.10:g.179103034A>G	NCBI36
NG_011618.3:g.305742T>C , LRG_391:g.305742T>C
NG_051363.1:g.12235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98726T>C (TTN)	ENSP00000343764.6:p.Leu32909Ser
ENST00000342175.11:c.79811T>C (TTN)	ENSP00000340554.6:p.Leu26604Ser
ENST00000359218.10:c.79610T>C (TTN)	ENSP00000352154.5:p.Leu26537Ser
ENST00000342175.10:c.79811T>C (TTN)	ENSP00000340554.6:p.Leu26604Ser
ENST00000342992.10:c.98726T>C (TTN)	ENSP00000343764.6:p.Leu32909Ser
ENST00000359218.9:c.79610T>C (TTN)	ENSP00000352154.5:p.Leu26537Ser
ENST00000460472.6:c.79235T>C (TTN)	ENSP00000434586.1:p.Leu26412Ser
ENST00000589042.5:c.106430T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu35477Ser
ENST00000591111.5:c.101507T>C (TTN)	ENSP00000465570.1:p.Leu33836Ser
ENST00000615779.4:c.101507T>C (TTN)	ENSP00000483597.1:p.Leu33836Ser
NM_001256850.1:c.101507T>C (TTN)	NP_001243779.1:p.Leu33836Ser
NM_001267550.2:c.106430T>C (TTN) MANE Select	NP_001254479.2:p.Leu35477Ser
NM_003319.4:c.79235T>C (TTN)	NP_003310.4:p.Leu26412Ser
NM_133378.4:c.98726T>C (TTN)	NP_596869.4:p.Leu32909Ser
NM_133432.3:c.79610T>C (TTN)	NP_597676.3:p.Leu26537Ser
NM_133437.4:c.79811T>C (TTN)	NP_597681.4:p.Leu26604Ser
NR_038271.1:n.446+6425A>G (TTN-AS1)
NR_038272.1:n.220-5671A>G (TTN-AS1)
XM_011511729.1:c.105527T>C (TTN)	XP_011510031.1:p.Leu35176Ser
XM_011511730.1:c.79421T>C (TTN)	XP_011510032.1:p.Leu26474Ser
XM_011511731.1:c.79280T>C (TTN)	XP_011510033.1:p.Leu26427Ser
XM_017004819.1:c.105323T>C (TTN)	XP_016860308.1:p.Leu35108Ser
XM_017004820.1:c.100721T>C (TTN)	XP_016860309.1:p.Leu33574Ser
XM_017004821.1:c.100718T>C (TTN)	XP_016860310.1:p.Leu33573Ser
XM_017004822.1:c.97760T>C (TTN)	XP_016860311.1:p.Leu32587Ser
XM_017004823.1:c.79376T>C (TTN)	XP_016860312.1:p.Leu26459Ser
XM_024453094.1:c.100871T>C (TTN)	XP_024308862.1:p.Leu33624Ser
XM_024453095.1:c.100868T>C (TTN)	XP_024308863.1:p.Leu33623Ser
XM_024453096.1:c.100301T>C (TTN)	XP_024308864.1:p.Leu33434Ser
XM_024453097.1:c.97643T>C (TTN)	XP_024308865.1:p.Leu32548Ser
XM_024453098.1:c.97562T>C (TTN)	XP_024308866.1:p.Leu32521Ser
XM_024453099.1:c.79325T>C (TTN)	XP_024308867.1:p.Leu26442Ser
XM_024453100.1:c.69179T>C (TTN)	XP_024308868.1:p.Leu23060Ser