Canonical Allele Identifier: CA10581875

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178649850C>G , CM000664.2:g.178649850C>G	GRCh38
NC_000002.11:g.179514577C>G , CM000664.1:g.179514577C>G	GRCh37
NC_000002.10:g.179222822C>G	NCBI36
NG_011618.3:g.185953G>C , LRG_391:g.185953G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.39862G>C MANE Select	NP_001254479.2:p.Val13288Leu
ENST00000589042.5:c.39862G>C MANE Select	ENSP00000467141.1:p.Val13288Leu
NM_001256850.1:c.35341G>C	NP_001243779.1:p.Val11781Leu
NM_003319.4:c.13283-7533G>C	NP_003310.4:n.13283-7533G>C
NM_133378.4:c.32560G>C	NP_596869.4:p.Val10854Leu
NM_133432.3:c.13658-7533G>C	NP_597676.3:n.13658-7533G>C
NM_133437.4:c.13859-7533G>C	NP_597681.4:n.13859-7533G>C
ENST00000342175.10:c.13859-7533G>C	ENSP00000340554.6:n.13859-7533G>C
ENST00000342175.11:c.13859-7533G>C	ENSP00000340554.6:n.13859-7533G>C
ENST00000342992.10:c.32560G>C	ENSP00000343764.6:p.Val10854Leu
ENST00000342992.11:c.32560G>C	ENSP00000343764.6:p.Val10854Leu
ENST00000359218.10:c.13658-7533G>C	ENSP00000352154.5:n.13658-7533G>C
ENST00000359218.9:c.13658-7533G>C	ENSP00000352154.5:n.13658-7533G>C
ENST00000414766.5:c.2441-7533G>C	ENSP00000401501.1:n.2441-7533G>C
ENST00000426232.5:c.383G>C
ENST00000446966.1:c.379G>C	ENSP00000408004.1:p.Val127Leu
ENST00000460472.6:c.13283-7533G>C	ENSP00000434586.1:n.13283-7533G>C
ENST00000591111.5:c.35341G>C	ENSP00000465570.1:p.Val11781Leu
ENST00000615779.4:c.35341G>C	ENSP00000483597.1:p.Val11781Leu
XM_011511729.1:c.38959G>C	XP_011510031.1:p.Val12987Leu
XM_011511730.1:c.13469-7533G>C	XP_011510032.1:n.13469-7533G>C
XM_011511731.1:c.13328-7533G>C	XP_011510033.1:n.13328-7533G>C
XM_017004819.1:c.38755G>C	XP_016860308.1:p.Val12919Leu
XM_017004820.1:c.34153G>C	XP_016860309.1:p.Val11385Leu
XM_017004821.1:c.34150G>C	XP_016860310.1:p.Val11384Leu
XM_017004822.1:c.31859-7533G>C	XP_016860311.1:n.31859-7533G>C
XM_017004823.1:c.13424-7533G>C	XP_016860312.1:n.13424-7533G>C
XM_024453094.1:c.34303G>C	XP_024308862.1:p.Val11435Leu
XM_024453095.1:c.34300G>C	XP_024308863.1:p.Val11434Leu
XM_024453096.1:c.33733G>C	XP_024308864.1:p.Val11245Leu
XM_024453097.1:c.31691-7533G>C	XP_024308865.1:n.31691-7533G>C
XM_024453098.1:c.31610-7533G>C	XP_024308866.1:n.31610-7533G>C
XM_024453099.1:c.13424-7533G>C	XP_024308867.1:n.13424-7533G>C
XM_024453100.1:c.2611G>C	XP_024308868.1:p.Val871Leu