Canonical Allele Identifier: CA349529257

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178677654C>A , CM000664.2:g.178677654C>A	GRCh38
NC_000002.11:g.179542381C>A , CM000664.1:g.179542381C>A	GRCh37
NC_000002.10:g.179250626C>A	NCBI36
NG_011618.3:g.158149G>T , LRG_391:g.158149G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.34258G>T MANE Select	NP_001254479.2:p.Glu11420Ter
ENST00000589042.5:c.34258G>T MANE Select	ENSP00000467141.1:p.Glu11420Ter
NM_001256850.1:c.33307G>T	NP_001243779.1:p.Glu11103Ter
NM_003319.4:c.13283-35337G>T	NP_003310.4:n.13283-35337G>T
NM_133378.4:c.30526G>T	NP_596869.4:p.Glu10176Ter
NM_133432.3:c.13658-35337G>T	NP_597676.3:n.13658-35337G>T
NM_133437.4:c.13859-35337G>T	NP_597681.4:n.13859-35337G>T
ENST00000342175.10:c.13859-35337G>T	ENSP00000340554.6:n.13859-35337G>T
ENST00000342175.11:c.13859-35337G>T	ENSP00000340554.6:n.13859-35337G>T
ENST00000342992.10:c.30526G>T	ENSP00000343764.6:p.Glu10176Ter
ENST00000342992.11:c.30526G>T	ENSP00000343764.6:p.Glu10176Ter
ENST00000359218.10:c.13658-35337G>T	ENSP00000352154.5:n.13658-35337G>T
ENST00000359218.9:c.13658-35337G>T	ENSP00000352154.5:n.13658-35337G>T
ENST00000414766.5:c.2266+471G>T	ENSP00000401501.1:n.2266+471G>T
ENST00000460472.6:c.13283-35337G>T	ENSP00000434586.1:n.13283-35337G>T
ENST00000591111.5:c.33307G>T	ENSP00000465570.1:p.Glu11103Ter
ENST00000615779.4:c.33307G>T	ENSP00000483597.1:p.Glu11103Ter
XM_011511729.1:c.33355G>T	XP_011510031.1:p.Glu11119Ter
XM_011511730.1:c.13469-35337G>T	XP_011510032.1:n.13469-35337G>T
XM_011511731.1:c.13328-35337G>T	XP_011510033.1:n.13328-35337G>T
XM_017004819.1:c.33310G>T	XP_016860308.1:p.Glu11104Ter
XM_017004820.1:c.30529G>T	XP_016860309.1:p.Glu10177Ter
XM_017004821.1:c.30526G>T	XP_016860310.1:p.Glu10176Ter
XM_017004822.1:c.31684+471G>T	XP_016860311.1:n.31684+471G>T
XM_017004823.1:c.13424-35337G>T	XP_016860312.1:n.13424-35337G>T
XM_024453094.1:c.33046+471G>T	XP_024308862.1:n.33046+471G>T
XM_024453095.1:c.33046+471G>T	XP_024308863.1:n.33046+471G>T
XM_024453096.1:c.32476+471G>T	XP_024308864.1:n.32476+471G>T
XM_024453097.1:c.31516+471G>T	XP_024308865.1:n.31516+471G>T
XM_024453098.1:c.31435+471G>T	XP_024308866.1:n.31435+471G>T
XM_024453099.1:c.13424-35337G>T	XP_024308867.1:n.13424-35337G>T