Canonical Allele Identifier: CA349645850

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630803C>G , CM000664.2:g.178630803C>G	GRCh38
NC_000002.11:g.179495530C>G , CM000664.1:g.179495530C>G	GRCh37
NC_000002.10:g.179203775C>G	NCBI36
NG_011618.3:g.205000G>C , LRG_391:g.205000G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.44154+1G>C MANE Select	NP_001254479.2:n.44154+1G>C
ENST00000589042.5:c.44154+1G>C MANE Select	ENSP00000467141.1:n.44154+1G>C
NM_001256850.1:c.39231+1G>C	NP_001243779.1:n.39231+1G>C
NM_003319.4:c.16959+1G>C	NP_003310.4:n.16959+1G>C
NM_133378.4:c.36450+1G>C	NP_596869.4:n.36450+1G>C
NM_133432.3:c.17334+1G>C	NP_597676.3:n.17334+1G>C
NM_133437.4:c.17535+1G>C	NP_597681.4:n.17535+1G>C
ENST00000342175.10:c.17535+1G>C	ENSP00000340554.6:n.17535+1G>C
ENST00000342175.11:c.17535+1G>C	ENSP00000340554.6:n.17535+1G>C
ENST00000342992.10:c.36450+1G>C	ENSP00000343764.6:n.36450+1G>C
ENST00000342992.11:c.36450+1G>C	ENSP00000343764.6:n.36450+1G>C
ENST00000359218.10:c.17334+1G>C	ENSP00000352154.5:n.17334+1G>C
ENST00000359218.9:c.17334+1G>C	ENSP00000352154.5:n.17334+1G>C
ENST00000460472.6:c.16959+1G>C	ENSP00000434586.1:n.16959+1G>C
ENST00000591111.5:c.39231+1G>C	ENSP00000465570.1:n.39231+1G>C
ENST00000615779.4:c.39231+1G>C	ENSP00000483597.1:n.39231+1G>C
XM_011511729.1:c.43251+1G>C	XP_011510031.1:n.43251+1G>C
XM_011511730.1:c.17145+1G>C	XP_011510032.1:n.17145+1G>C
XM_011511731.1:c.17004+1G>C	XP_011510033.1:n.17004+1G>C
XM_017004819.1:c.43047+1G>C	XP_016860308.1:n.43047+1G>C
XM_017004820.1:c.38445+1G>C	XP_016860309.1:n.38445+1G>C
XM_017004821.1:c.38442+1G>C	XP_016860310.1:n.38442+1G>C
XM_017004822.1:c.35484+1G>C	XP_016860311.1:n.35484+1G>C
XM_017004823.1:c.17100+1G>C	XP_016860312.1:n.17100+1G>C
XM_024453094.1:c.38595+1G>C	XP_024308862.1:n.38595+1G>C
XM_024453095.1:c.38592+1G>C	XP_024308863.1:n.38592+1G>C
XM_024453096.1:c.38025+1G>C	XP_024308864.1:n.38025+1G>C
XM_024453097.1:c.35367+1G>C	XP_024308865.1:n.35367+1G>C
XM_024453098.1:c.35286+1G>C	XP_024308866.1:n.35286+1G>C
XM_024453099.1:c.17049+1G>C	XP_024308867.1:n.17049+1G>C
XM_024453100.1:c.6903+1G>C	XP_024308868.1:n.6903+1G>C