Canonical Allele Identifier: CA349423325

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444291C>G (hg19) ; chr2:g.178579564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579564C>G , CM000664.2:g.178579564C>G	GRCh38
NC_000002.11:g.179444291C>G , CM000664.1:g.179444291C>G	GRCh37
NC_000002.10:g.179152537C>G	NCBI36
NG_011618.3:g.256239G>C , LRG_391:g.256239G>C
NG_051363.1:g.61738C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59929G>C (TTN)	ENSP00000343764.6:p.Val19977Leu
ENST00000342175.11:c.41014G>C (TTN)	ENSP00000340554.6:p.Val13672Leu
ENST00000359218.10:c.40813G>C (TTN)	ENSP00000352154.5:p.Val13605Leu
ENST00000342175.10:c.41014G>C (TTN)	ENSP00000340554.6:p.Val13672Leu
ENST00000342992.10:c.59929G>C (TTN)	ENSP00000343764.6:p.Val19977Leu
ENST00000359218.9:c.40813G>C (TTN)	ENSP00000352154.5:p.Val13605Leu
ENST00000460472.6:c.40438G>C (TTN)	ENSP00000434586.1:p.Val13480Leu
ENST00000589042.5:c.67633G>C (TTN) MANE Select	ENSP00000467141.1:p.Val22545Leu
ENST00000591111.5:c.62710G>C (TTN)	ENSP00000465570.1:p.Val20904Leu
ENST00000615779.4:c.62710G>C (TTN)	ENSP00000483597.1:p.Val20904Leu
NM_001256850.1:c.62710G>C (TTN)	NP_001243779.1:p.Val20904Leu
NM_001267550.2:c.67633G>C (TTN) MANE Select	NP_001254479.2:p.Val22545Leu
NM_003319.4:c.40438G>C (TTN)	NP_003310.4:p.Val13480Leu
NM_133378.4:c.59929G>C (TTN)	NP_596869.4:p.Val19977Leu
NM_133432.3:c.40813G>C (TTN)	NP_597676.3:p.Val13605Leu
NM_133437.4:c.41014G>C (TTN)	NP_597681.4:p.Val13672Leu
NR_038271.1:n.596+8115C>G (TTN-AS1)
NR_038272.1:n.2044-3008C>G (TTN-AS1)
XM_011511729.1:c.66730G>C (TTN)	XP_011510031.1:p.Val22244Leu
XM_011511730.1:c.40624G>C (TTN)	XP_011510032.1:p.Val13542Leu
XM_011511731.1:c.40483G>C (TTN)	XP_011510033.1:p.Val13495Leu
XM_017004819.1:c.66526G>C (TTN)	XP_016860308.1:p.Val22176Leu
XM_017004820.1:c.61924G>C (TTN)	XP_016860309.1:p.Val20642Leu
XM_017004821.1:c.61921G>C (TTN)	XP_016860310.1:p.Val20641Leu
XM_017004822.1:c.58963G>C (TTN)	XP_016860311.1:p.Val19655Leu
XM_017004823.1:c.40579G>C (TTN)	XP_016860312.1:p.Val13527Leu
XM_024453094.1:c.62074G>C (TTN)	XP_024308862.1:p.Val20692Leu
XM_024453095.1:c.62071G>C (TTN)	XP_024308863.1:p.Val20691Leu
XM_024453096.1:c.61504G>C (TTN)	XP_024308864.1:p.Val20502Leu
XM_024453097.1:c.58846G>C (TTN)	XP_024308865.1:p.Val19616Leu
XM_024453098.1:c.58765G>C (TTN)	XP_024308866.1:p.Val19589Leu
XM_024453099.1:c.40528G>C (TTN)	XP_024308867.1:p.Val13510Leu
XM_024453100.1:c.30382G>C (TTN)	XP_024308868.1:p.Val10128Leu