Canonical Allele Identifier: CA349621836

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483404A>T (hg19) ; chr2:g.178618677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618677A>T , CM000664.2:g.178618677A>T	GRCh38
NC_000002.11:g.179483404A>T , CM000664.1:g.179483404A>T	GRCh37
NC_000002.10:g.179191649A>T	NCBI36
NG_011618.3:g.217126T>A , LRG_391:g.217126T>A
NG_051363.1:g.100851A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39169T>A (TTN)	ENSP00000343764.6:p.Leu13057Ile
ENST00000342175.11:c.20254T>A (TTN)	ENSP00000340554.6:p.Leu6752Ile
ENST00000359218.10:c.20053T>A (TTN)	ENSP00000352154.5:p.Leu6685Ile
ENST00000342175.10:c.20254T>A (TTN)	ENSP00000340554.6:p.Leu6752Ile
ENST00000342992.10:c.39169T>A (TTN)	ENSP00000343764.6:p.Leu13057Ile
ENST00000359218.9:c.20053T>A (TTN)	ENSP00000352154.5:p.Leu6685Ile
ENST00000460472.6:c.19678T>A (TTN)	ENSP00000434586.1:p.Leu6560Ile
ENST00000589042.5:c.46873T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu15625Ile
ENST00000591111.5:c.41950T>A (TTN)	ENSP00000465570.1:p.Leu13984Ile
ENST00000615779.4:c.41950T>A (TTN)	ENSP00000483597.1:p.Leu13984Ile
NM_001256850.1:c.41950T>A (TTN)	NP_001243779.1:p.Leu13984Ile
NM_001267550.2:c.46873T>A (TTN) MANE Select	NP_001254479.2:p.Leu15625Ile
NM_003319.4:c.19678T>A (TTN)	NP_003310.4:p.Leu6560Ile
NM_133378.4:c.39169T>A (TTN)	NP_596869.4:p.Leu13057Ile
NM_133432.3:c.20053T>A (TTN)	NP_597676.3:p.Leu6685Ile
NM_133437.4:c.20254T>A (TTN)	NP_597681.4:p.Leu6752Ile
NR_038271.1:n.1605-1076A>T (TTN-AS1)
XM_011511729.1:c.45970T>A (TTN)	XP_011510031.1:p.Leu15324Ile
XM_011511730.1:c.19864T>A (TTN)	XP_011510032.1:p.Leu6622Ile
XM_011511731.1:c.19723T>A (TTN)	XP_011510033.1:p.Leu6575Ile
XM_017004819.1:c.45766T>A (TTN)	XP_016860308.1:p.Leu15256Ile
XM_017004820.1:c.41164T>A (TTN)	XP_016860309.1:p.Leu13722Ile
XM_017004821.1:c.41161T>A (TTN)	XP_016860310.1:p.Leu13721Ile
XM_017004822.1:c.38203T>A (TTN)	XP_016860311.1:p.Leu12735Ile
XM_017004823.1:c.19819T>A (TTN)	XP_016860312.1:p.Leu6607Ile
XM_024453094.1:c.41314T>A (TTN)	XP_024308862.1:p.Leu13772Ile
XM_024453095.1:c.41311T>A (TTN)	XP_024308863.1:p.Leu13771Ile
XM_024453096.1:c.40744T>A (TTN)	XP_024308864.1:p.Leu13582Ile
XM_024453097.1:c.38086T>A (TTN)	XP_024308865.1:p.Leu12696Ile
XM_024453098.1:c.38005T>A (TTN)	XP_024308866.1:p.Leu12669Ile
XM_024453099.1:c.19768T>A (TTN)	XP_024308867.1:p.Leu6590Ile
XM_024453100.1:c.9622T>A (TTN)	XP_024308868.1:p.Leu3208Ile