Canonical Allele Identifier: CA349455624

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408994C>G (hg19) ; chr2:g.178544267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544267C>G , CM000664.2:g.178544267C>G	GRCh38
NC_000002.11:g.179408994C>G , CM000664.1:g.179408994C>G	GRCh37
NC_000002.10:g.179117240C>G	NCBI36
NG_011618.3:g.291536G>C , LRG_391:g.291536G>C
NG_051363.1:g.26441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88258G>C (TTN)	ENSP00000343764.6:p.Val29420Leu
ENST00000342175.11:c.69343G>C (TTN)	ENSP00000340554.6:p.Val23115Leu
ENST00000359218.10:c.69142G>C (TTN)	ENSP00000352154.5:p.Val23048Leu
ENST00000342175.10:c.69343G>C (TTN)	ENSP00000340554.6:p.Val23115Leu
ENST00000342992.10:c.88258G>C (TTN)	ENSP00000343764.6:p.Val29420Leu
ENST00000359218.9:c.69142G>C (TTN)	ENSP00000352154.5:p.Val23048Leu
ENST00000460472.6:c.68767G>C (TTN)	ENSP00000434586.1:p.Val22923Leu
ENST00000589042.5:c.95962G>C (TTN) MANE Select	ENSP00000467141.1:p.Val31988Leu
ENST00000591111.5:c.91039G>C (TTN)	ENSP00000465570.1:p.Val30347Leu
ENST00000615779.4:c.91039G>C (TTN)	ENSP00000483597.1:p.Val30347Leu
NM_001256850.1:c.91039G>C (TTN)	NP_001243779.1:p.Val30347Leu
NM_001267550.2:c.95962G>C (TTN) MANE Select	NP_001254479.2:p.Val31988Leu
NM_003319.4:c.68767G>C (TTN)	NP_003310.4:p.Val22923Leu
NM_133378.4:c.88258G>C (TTN)	NP_596869.4:p.Val29420Leu
NM_133432.3:c.69142G>C (TTN)	NP_597676.3:p.Val23048Leu
NM_133437.4:c.69343G>C (TTN)	NP_597681.4:p.Val23115Leu
NR_038271.1:n.446+20631C>G (TTN-AS1)
NR_038272.1:n.2043+1906C>G (TTN-AS1)
XM_011511729.1:c.95059G>C (TTN)	XP_011510031.1:p.Val31687Leu
XM_011511730.1:c.68953G>C (TTN)	XP_011510032.1:p.Val22985Leu
XM_011511731.1:c.68812G>C (TTN)	XP_011510033.1:p.Val22938Leu
XM_017004819.1:c.94855G>C (TTN)	XP_016860308.1:p.Val31619Leu
XM_017004820.1:c.90253G>C (TTN)	XP_016860309.1:p.Val30085Leu
XM_017004821.1:c.90250G>C (TTN)	XP_016860310.1:p.Val30084Leu
XM_017004822.1:c.87292G>C (TTN)	XP_016860311.1:p.Val29098Leu
XM_017004823.1:c.68908G>C (TTN)	XP_016860312.1:p.Val22970Leu
XM_024453094.1:c.90403G>C (TTN)	XP_024308862.1:p.Val30135Leu
XM_024453095.1:c.90400G>C (TTN)	XP_024308863.1:p.Val30134Leu
XM_024453096.1:c.89833G>C (TTN)	XP_024308864.1:p.Val29945Leu
XM_024453097.1:c.87175G>C (TTN)	XP_024308865.1:p.Val29059Leu
XM_024453098.1:c.87094G>C (TTN)	XP_024308866.1:p.Val29032Leu
XM_024453099.1:c.68857G>C (TTN)	XP_024308867.1:p.Val22953Leu
XM_024453100.1:c.58711G>C (TTN)	XP_024308868.1:p.Val19571Leu