Canonical Allele Identifier: CA349526782

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598918C>G , CM000664.2:g.178598918C>G	GRCh38
NC_000002.11:g.179463645C>G , CM000664.1:g.179463645C>G	GRCh37
NC_000002.10:g.179171890C>G	NCBI36
NG_011618.3:g.236885G>C , LRG_391:g.236885G>C
NG_051363.1:g.81092C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.56792G>C (TTN) MANE Select	NP_001254479.2:p.Trp18931Ser
ENST00000589042.5:c.56792G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp18931Ser
NM_001256850.1:c.51869G>C (TTN)	NP_001243779.1:p.Trp17290Ser
NM_003319.4:c.29597G>C (TTN)	NP_003310.4:p.Trp9866Ser
NM_133378.4:c.49088G>C (TTN)	NP_596869.4:p.Trp16363Ser
NM_133432.3:c.29972G>C (TTN)	NP_597676.3:p.Trp9991Ser
NM_133437.4:c.30173G>C (TTN)	NP_597681.4:p.Trp10058Ser
NR_038271.1:n.682+1237C>G (TTN-AS1)
NR_038272.1:n.3568+245C>G (TTN-AS1)
ENST00000342175.10:c.30173G>C (TTN)	ENSP00000340554.6:p.Trp10058Ser
ENST00000342175.11:c.30173G>C (TTN)	ENSP00000340554.6:p.Trp10058Ser
ENST00000342992.10:c.49088G>C (TTN)	ENSP00000343764.6:p.Trp16363Ser
ENST00000342992.11:c.49088G>C (TTN)	ENSP00000343764.6:p.Trp16363Ser
ENST00000359218.10:c.29972G>C (TTN)	ENSP00000352154.5:p.Trp9991Ser
ENST00000359218.9:c.29972G>C (TTN)	ENSP00000352154.5:p.Trp9991Ser
ENST00000460472.6:c.29597G>C (TTN)	ENSP00000434586.1:p.Trp9866Ser
ENST00000591111.5:c.51869G>C (TTN)	ENSP00000465570.1:p.Trp17290Ser
ENST00000615779.4:c.51869G>C (TTN)	ENSP00000483597.1:p.Trp17290Ser
XM_011511729.1:c.55889G>C (TTN)	XP_011510031.1:p.Trp18630Ser
XM_011511730.1:c.29783G>C (TTN)	XP_011510032.1:p.Trp9928Ser
XM_011511731.1:c.29642G>C (TTN)	XP_011510033.1:p.Trp9881Ser
XM_017004819.1:c.55685G>C (TTN)	XP_016860308.1:p.Trp18562Ser
XM_017004820.1:c.51083G>C (TTN)	XP_016860309.1:p.Trp17028Ser
XM_017004821.1:c.51080G>C (TTN)	XP_016860310.1:p.Trp17027Ser
XM_017004822.1:c.48122G>C (TTN)	XP_016860311.1:p.Trp16041Ser
XM_017004823.1:c.29738G>C (TTN)	XP_016860312.1:p.Trp9913Ser
XM_024453094.1:c.51233G>C (TTN)	XP_024308862.1:p.Trp17078Ser
XM_024453095.1:c.51230G>C (TTN)	XP_024308863.1:p.Trp17077Ser
XM_024453096.1:c.50663G>C (TTN)	XP_024308864.1:p.Trp16888Ser
XM_024453097.1:c.48005G>C (TTN)	XP_024308865.1:p.Trp16002Ser
XM_024453098.1:c.47924G>C (TTN)	XP_024308866.1:p.Trp15975Ser
XM_024453099.1:c.29687G>C (TTN)	XP_024308867.1:p.Trp9896Ser
XM_024453100.1:c.19541G>C (TTN)	XP_024308868.1:p.Trp6514Ser