Canonical Allele Identifier: CA430277939

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636402T>A , CM000664.2:g.178636402T>A	GRCh38
NC_000002.11:g.179501129T>A , CM000664.1:g.179501129T>A	GRCh37
NC_000002.10:g.179209374T>A	NCBI36
NG_011618.3:g.199401A>T , LRG_391:g.199401A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.41325A>T MANE Select	NP_001254479.2:p.Val13775=
ENST00000589042.5:c.41325A>T MANE Select	ENSP00000467141.1:p.Val13775=
NM_001256850.1:c.36402A>T	NP_001243779.1:p.Val12134=
NM_003319.4:c.14130A>T	NP_003310.4:p.Val4710=
NM_133378.4:c.33621A>T	NP_596869.4:p.Val11207=
NM_133432.3:c.14505A>T	NP_597676.3:p.Val4835=
NM_133437.4:c.14706A>T	NP_597681.4:p.Val4902=
ENST00000342175.10:c.14706A>T	ENSP00000340554.6:p.Val4902=
ENST00000342175.11:c.14706A>T	ENSP00000340554.6:p.Val4902=
ENST00000342992.10:c.33621A>T	ENSP00000343764.6:p.Val11207=
ENST00000342992.11:c.33621A>T	ENSP00000343764.6:p.Val11207=
ENST00000359218.10:c.14505A>T	ENSP00000352154.5:p.Val4835=
ENST00000359218.9:c.14505A>T	ENSP00000352154.5:p.Val4835=
ENST00000460472.6:c.14130A>T	ENSP00000434586.1:p.Val4710=
ENST00000591111.5:c.36402A>T	ENSP00000465570.1:p.Val12134=
ENST00000615779.4:c.36402A>T	ENSP00000483597.1:p.Val12134=
XM_011511729.1:c.40422A>T	XP_011510031.1:p.Val13474=
XM_011511730.1:c.14316A>T	XP_011510032.1:p.Val4772=
XM_011511731.1:c.14175A>T	XP_011510033.1:p.Val4725=
XM_017004819.1:c.40218A>T	XP_016860308.1:p.Val13406=
XM_017004820.1:c.35616A>T	XP_016860309.1:p.Val11872=
XM_017004821.1:c.35613A>T	XP_016860310.1:p.Val11871=
XM_017004822.1:c.32655A>T	XP_016860311.1:p.Val10885=
XM_017004823.1:c.14271A>T	XP_016860312.1:p.Val4757=
XM_024453094.1:c.35766A>T	XP_024308862.1:p.Val11922=
XM_024453095.1:c.35763A>T	XP_024308863.1:p.Val11921=
XM_024453096.1:c.35196A>T	XP_024308864.1:p.Val11732=
XM_024453097.1:c.32538A>T	XP_024308865.1:p.Val10846=
XM_024453098.1:c.32457A>T	XP_024308866.1:p.Val10819=
XM_024453099.1:c.14220A>T	XP_024308867.1:p.Val4740=
XM_024453100.1:c.4074A>T	XP_024308868.1:p.Val1358=