Canonical Allele Identifier: CA349657895

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439529A>G (hg19) ; chr2:g.178574802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574802A>G , CM000664.2:g.178574802A>G	GRCh38
NC_000002.11:g.179439529A>G , CM000664.1:g.179439529A>G	GRCh37
NC_000002.10:g.179147775A>G	NCBI36
NG_011618.3:g.261001T>C , LRG_391:g.261001T>C
NG_051363.1:g.56976A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63626T>C (TTN)	ENSP00000343764.6:p.Leu21209Ser
ENST00000342175.11:c.44711T>C (TTN)	ENSP00000340554.6:p.Leu14904Ser
ENST00000359218.10:c.44510T>C (TTN)	ENSP00000352154.5:p.Leu14837Ser
ENST00000342175.10:c.44711T>C (TTN)	ENSP00000340554.6:p.Leu14904Ser
ENST00000342992.10:c.63626T>C (TTN)	ENSP00000343764.6:p.Leu21209Ser
ENST00000359218.9:c.44510T>C (TTN)	ENSP00000352154.5:p.Leu14837Ser
ENST00000460472.6:c.44135T>C (TTN)	ENSP00000434586.1:p.Leu14712Ser
ENST00000589042.5:c.71330T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu23777Ser
ENST00000591111.5:c.66407T>C (TTN)	ENSP00000465570.1:p.Leu22136Ser
ENST00000615779.4:c.66407T>C (TTN)	ENSP00000483597.1:p.Leu22136Ser
NM_001256850.1:c.66407T>C (TTN)	NP_001243779.1:p.Leu22136Ser
NM_001267550.2:c.71330T>C (TTN) MANE Select	NP_001254479.2:p.Leu23777Ser
NM_003319.4:c.44135T>C (TTN)	NP_003310.4:p.Leu14712Ser
NM_133378.4:c.63626T>C (TTN)	NP_596869.4:p.Leu21209Ser
NM_133432.3:c.44510T>C (TTN)	NP_597676.3:p.Leu14837Ser
NM_133437.4:c.44711T>C (TTN)	NP_597681.4:p.Leu14904Ser
NR_038271.1:n.596+3353A>G (TTN-AS1)
NR_038272.1:n.2044-7770A>G (TTN-AS1)
XM_011511729.1:c.70427T>C (TTN)	XP_011510031.1:p.Leu23476Ser
XM_011511730.1:c.44321T>C (TTN)	XP_011510032.1:p.Leu14774Ser
XM_011511731.1:c.44180T>C (TTN)	XP_011510033.1:p.Leu14727Ser
XM_017004819.1:c.70223T>C (TTN)	XP_016860308.1:p.Leu23408Ser
XM_017004820.1:c.65621T>C (TTN)	XP_016860309.1:p.Leu21874Ser
XM_017004821.1:c.65618T>C (TTN)	XP_016860310.1:p.Leu21873Ser
XM_017004822.1:c.62660T>C (TTN)	XP_016860311.1:p.Leu20887Ser
XM_017004823.1:c.44276T>C (TTN)	XP_016860312.1:p.Leu14759Ser
XM_024453094.1:c.65771T>C (TTN)	XP_024308862.1:p.Leu21924Ser
XM_024453095.1:c.65768T>C (TTN)	XP_024308863.1:p.Leu21923Ser
XM_024453096.1:c.65201T>C (TTN)	XP_024308864.1:p.Leu21734Ser
XM_024453097.1:c.62543T>C (TTN)	XP_024308865.1:p.Leu20848Ser
XM_024453098.1:c.62462T>C (TTN)	XP_024308866.1:p.Leu20821Ser
XM_024453099.1:c.44225T>C (TTN)	XP_024308867.1:p.Leu14742Ser
XM_024453100.1:c.34079T>C (TTN)	XP_024308868.1:p.Leu11360Ser