Canonical Allele Identifier: CA349411511

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396833G>T (hg19) ; chr2:g.178532106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532106G>T , CM000664.2:g.178532106G>T	GRCh38
NC_000002.11:g.179396833G>T , CM000664.1:g.179396833G>T	GRCh37
NC_000002.10:g.179105079G>T	NCBI36
NG_011618.3:g.303697C>A , LRG_391:g.303697C>A
NG_051363.1:g.14280G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.96805C>A (TTN)	ENSP00000343764.6:p.Leu32269Met
ENST00000342175.11:c.77890C>A (TTN)	ENSP00000340554.6:p.Leu25964Met
ENST00000359218.10:c.77689C>A (TTN)	ENSP00000352154.5:p.Leu25897Met
ENST00000342175.10:c.77890C>A (TTN)	ENSP00000340554.6:p.Leu25964Met
ENST00000342992.10:c.96805C>A (TTN)	ENSP00000343764.6:p.Leu32269Met
ENST00000359218.9:c.77689C>A (TTN)	ENSP00000352154.5:p.Leu25897Met
ENST00000460472.6:c.77314C>A (TTN)	ENSP00000434586.1:p.Leu25772Met
ENST00000589042.5:c.104509C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu34837Met
ENST00000591111.5:c.99586C>A (TTN)	ENSP00000465570.1:p.Leu33196Met
ENST00000615779.4:c.99586C>A (TTN)	ENSP00000483597.1:p.Leu33196Met
NM_001256850.1:c.99586C>A (TTN)	NP_001243779.1:p.Leu33196Met
NM_001267550.2:c.104509C>A (TTN) MANE Select	NP_001254479.2:p.Leu34837Met
NM_003319.4:c.77314C>A (TTN)	NP_003310.4:p.Leu25772Met
NM_133378.4:c.96805C>A (TTN)	NP_596869.4:p.Leu32269Met
NM_133432.3:c.77689C>A (TTN)	NP_597676.3:p.Leu25897Met
NM_133437.4:c.77890C>A (TTN)	NP_597681.4:p.Leu25964Met
NR_038271.1:n.446+8470G>T (TTN-AS1)
NR_038272.1:n.220-3626G>T (TTN-AS1)
XM_011511729.1:c.103606C>A (TTN)	XP_011510031.1:p.Leu34536Met
XM_011511730.1:c.77500C>A (TTN)	XP_011510032.1:p.Leu25834Met
XM_011511731.1:c.77359C>A (TTN)	XP_011510033.1:p.Leu25787Met
XM_017004819.1:c.103402C>A (TTN)	XP_016860308.1:p.Leu34468Met
XM_017004820.1:c.98800C>A (TTN)	XP_016860309.1:p.Leu32934Met
XM_017004821.1:c.98797C>A (TTN)	XP_016860310.1:p.Leu32933Met
XM_017004822.1:c.95839C>A (TTN)	XP_016860311.1:p.Leu31947Met
XM_017004823.1:c.77455C>A (TTN)	XP_016860312.1:p.Leu25819Met
XM_024453094.1:c.98950C>A (TTN)	XP_024308862.1:p.Leu32984Met
XM_024453095.1:c.98947C>A (TTN)	XP_024308863.1:p.Leu32983Met
XM_024453096.1:c.98380C>A (TTN)	XP_024308864.1:p.Leu32794Met
XM_024453097.1:c.95722C>A (TTN)	XP_024308865.1:p.Leu31908Met
XM_024453098.1:c.95641C>A (TTN)	XP_024308866.1:p.Leu31881Met
XM_024453099.1:c.77404C>A (TTN)	XP_024308867.1:p.Leu25802Met
XM_024453100.1:c.67258C>A (TTN)	XP_024308868.1:p.Leu22420Met