Canonical Allele Identifier: CA349450890

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408614T>G (hg19) ; chr2:g.178543887T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543887T>G , CM000664.2:g.178543887T>G	GRCh38
NC_000002.11:g.179408614T>G , CM000664.1:g.179408614T>G	GRCh37
NC_000002.10:g.179116860T>G	NCBI36
NG_011618.3:g.291916A>C , LRG_391:g.291916A>C
NG_051363.1:g.26061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88553A>C (TTN)	ENSP00000343764.6:p.Glu29518Ala
ENST00000342175.11:c.69638A>C (TTN)	ENSP00000340554.6:p.Glu23213Ala
ENST00000359218.10:c.69437A>C (TTN)	ENSP00000352154.5:p.Glu23146Ala
ENST00000342175.10:c.69638A>C (TTN)	ENSP00000340554.6:p.Glu23213Ala
ENST00000342992.10:c.88553A>C (TTN)	ENSP00000343764.6:p.Glu29518Ala
ENST00000359218.9:c.69437A>C (TTN)	ENSP00000352154.5:p.Glu23146Ala
ENST00000460472.6:c.69062A>C (TTN)	ENSP00000434586.1:p.Glu23021Ala
ENST00000589042.5:c.96257A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu32086Ala
ENST00000591111.5:c.91334A>C (TTN)	ENSP00000465570.1:p.Glu30445Ala
ENST00000615779.4:c.91334A>C (TTN)	ENSP00000483597.1:p.Glu30445Ala
NM_001256850.1:c.91334A>C (TTN)	NP_001243779.1:p.Glu30445Ala
NM_001267550.2:c.96257A>C (TTN) MANE Select	NP_001254479.2:p.Glu32086Ala
NM_003319.4:c.69062A>C (TTN)	NP_003310.4:p.Glu23021Ala
NM_133378.4:c.88553A>C (TTN)	NP_596869.4:p.Glu29518Ala
NM_133432.3:c.69437A>C (TTN)	NP_597676.3:p.Glu23146Ala
NM_133437.4:c.69638A>C (TTN)	NP_597681.4:p.Glu23213Ala
NR_038271.1:n.446+20251T>G (TTN-AS1)
NR_038272.1:n.2043+1526T>G (TTN-AS1)
XM_011511729.1:c.95354A>C (TTN)	XP_011510031.1:p.Glu31785Ala
XM_011511730.1:c.69248A>C (TTN)	XP_011510032.1:p.Glu23083Ala
XM_011511731.1:c.69107A>C (TTN)	XP_011510033.1:p.Glu23036Ala
XM_017004819.1:c.95150A>C (TTN)	XP_016860308.1:p.Glu31717Ala
XM_017004820.1:c.90548A>C (TTN)	XP_016860309.1:p.Glu30183Ala
XM_017004821.1:c.90545A>C (TTN)	XP_016860310.1:p.Glu30182Ala
XM_017004822.1:c.87587A>C (TTN)	XP_016860311.1:p.Glu29196Ala
XM_017004823.1:c.69203A>C (TTN)	XP_016860312.1:p.Glu23068Ala
XM_024453094.1:c.90698A>C (TTN)	XP_024308862.1:p.Glu30233Ala
XM_024453095.1:c.90695A>C (TTN)	XP_024308863.1:p.Glu30232Ala
XM_024453096.1:c.90128A>C (TTN)	XP_024308864.1:p.Glu30043Ala
XM_024453097.1:c.87470A>C (TTN)	XP_024308865.1:p.Glu29157Ala
XM_024453098.1:c.87389A>C (TTN)	XP_024308866.1:p.Glu29130Ala
XM_024453099.1:c.69152A>C (TTN)	XP_024308867.1:p.Glu23051Ala
XM_024453100.1:c.59006A>C (TTN)	XP_024308868.1:p.Glu19669Ala