Canonical Allele Identifier: CA349633190

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621101C>G , CM000664.2:g.178621101C>G	GRCh38
NC_000002.11:g.179485828C>G , CM000664.1:g.179485828C>G	GRCh37
NC_000002.10:g.179194073C>G	NCBI36
NG_011618.3:g.214702G>C , LRG_391:g.214702G>C
NG_051363.1:g.103275C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.45616+1G>C MANE Select	NP_001254479.2:n.45616+1G>C
ENST00000589042.5:c.45616+1G>C MANE Select	ENSP00000467141.1:n.45616+1G>C
NM_001256850.1:c.40693+1G>C	NP_001243779.1:n.40693+1G>C
NM_003319.4:c.18421+1G>C	NP_003310.4:n.18421+1G>C
NM_133378.4:c.37912+1G>C	NP_596869.4:n.37912+1G>C
NM_133432.3:c.18796+1G>C	NP_597676.3:n.18796+1G>C
NM_133437.4:c.18997+1G>C	NP_597681.4:n.18997+1G>C
ENST00000342175.10:c.18997+1G>C	ENSP00000340554.6:n.18997+1G>C
ENST00000342175.11:c.18997+1G>C	ENSP00000340554.6:n.18997+1G>C
ENST00000342992.10:c.37912+1G>C	ENSP00000343764.6:n.37912+1G>C
ENST00000342992.11:c.37912+1G>C	ENSP00000343764.6:n.37912+1G>C
ENST00000359218.10:c.18796+1G>C	ENSP00000352154.5:n.18796+1G>C
ENST00000359218.9:c.18796+1G>C	ENSP00000352154.5:n.18796+1G>C
ENST00000460472.6:c.18421+1G>C	ENSP00000434586.1:n.18421+1G>C
ENST00000591111.5:c.40693+1G>C	ENSP00000465570.1:n.40693+1G>C
ENST00000615779.4:c.40693+1G>C	ENSP00000483597.1:n.40693+1G>C
XM_011511729.1:c.44713+1G>C	XP_011510031.1:n.44713+1G>C
XM_011511730.1:c.18607+1G>C	XP_011510032.1:n.18607+1G>C
XM_011511731.1:c.18466+1G>C	XP_011510033.1:n.18466+1G>C
XM_017004819.1:c.44509+1G>C	XP_016860308.1:n.44509+1G>C
XM_017004820.1:c.39907+1G>C	XP_016860309.1:n.39907+1G>C
XM_017004821.1:c.39904+1G>C	XP_016860310.1:n.39904+1G>C
XM_017004822.1:c.36946+1G>C	XP_016860311.1:n.36946+1G>C
XM_017004823.1:c.18562+1G>C	XP_016860312.1:n.18562+1G>C
XM_024453094.1:c.40057+1G>C	XP_024308862.1:n.40057+1G>C
XM_024453095.1:c.40054+1G>C	XP_024308863.1:n.40054+1G>C
XM_024453096.1:c.39487+1G>C	XP_024308864.1:n.39487+1G>C
XM_024453097.1:c.36829+1G>C	XP_024308865.1:n.36829+1G>C
XM_024453098.1:c.36748+1G>C	XP_024308866.1:n.36748+1G>C
XM_024453099.1:c.18511+1G>C	XP_024308867.1:n.18511+1G>C
XM_024453100.1:c.8365+1G>C	XP_024308868.1:n.8365+1G>C