Canonical Allele Identifier: CA349425394

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400894A>G (hg19) ; chr2:g.178536167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536167A>G , CM000664.2:g.178536167A>G	GRCh38
NC_000002.11:g.179400894A>G , CM000664.1:g.179400894A>G	GRCh37
NC_000002.10:g.179109140A>G	NCBI36
NG_011618.3:g.299636T>C , LRG_391:g.299636T>C
NG_051363.1:g.18341A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92876T>C (TTN)	ENSP00000343764.6:p.Val30959Ala
ENST00000342175.11:c.73961T>C (TTN)	ENSP00000340554.6:p.Val24654Ala
ENST00000359218.10:c.73760T>C (TTN)	ENSP00000352154.5:p.Val24587Ala
ENST00000342175.10:c.73961T>C (TTN)	ENSP00000340554.6:p.Val24654Ala
ENST00000342992.10:c.92876T>C (TTN)	ENSP00000343764.6:p.Val30959Ala
ENST00000359218.9:c.73760T>C (TTN)	ENSP00000352154.5:p.Val24587Ala
ENST00000460472.6:c.73385T>C (TTN)	ENSP00000434586.1:p.Val24462Ala
ENST00000589042.5:c.100580T>C (TTN) MANE Select	ENSP00000467141.1:p.Val33527Ala
ENST00000591111.5:c.95657T>C (TTN)	ENSP00000465570.1:p.Val31886Ala
ENST00000615779.4:c.95657T>C (TTN)	ENSP00000483597.1:p.Val31886Ala
NM_001256850.1:c.95657T>C (TTN)	NP_001243779.1:p.Val31886Ala
NM_001267550.2:c.100580T>C (TTN) MANE Select	NP_001254479.2:p.Val33527Ala
NM_003319.4:c.73385T>C (TTN)	NP_003310.4:p.Val24462Ala
NM_133378.4:c.92876T>C (TTN)	NP_596869.4:p.Val30959Ala
NM_133432.3:c.73760T>C (TTN)	NP_597676.3:p.Val24587Ala
NM_133437.4:c.73961T>C (TTN)	NP_597681.4:p.Val24654Ala
NR_038271.1:n.446+12531A>G (TTN-AS1)
NR_038272.1:n.316+339A>G (TTN-AS1)
XM_011511729.1:c.99677T>C (TTN)	XP_011510031.1:p.Val33226Ala
XM_011511730.1:c.73571T>C (TTN)	XP_011510032.1:p.Val24524Ala
XM_011511731.1:c.73430T>C (TTN)	XP_011510033.1:p.Val24477Ala
XM_017004819.1:c.99473T>C (TTN)	XP_016860308.1:p.Val33158Ala
XM_017004820.1:c.94871T>C (TTN)	XP_016860309.1:p.Val31624Ala
XM_017004821.1:c.94868T>C (TTN)	XP_016860310.1:p.Val31623Ala
XM_017004822.1:c.91910T>C (TTN)	XP_016860311.1:p.Val30637Ala
XM_017004823.1:c.73526T>C (TTN)	XP_016860312.1:p.Val24509Ala
XM_024453094.1:c.95021T>C (TTN)	XP_024308862.1:p.Val31674Ala
XM_024453095.1:c.95018T>C (TTN)	XP_024308863.1:p.Val31673Ala
XM_024453096.1:c.94451T>C (TTN)	XP_024308864.1:p.Val31484Ala
XM_024453097.1:c.91793T>C (TTN)	XP_024308865.1:p.Val30598Ala
XM_024453098.1:c.91712T>C (TTN)	XP_024308866.1:p.Val30571Ala
XM_024453099.1:c.73475T>C (TTN)	XP_024308867.1:p.Val24492Ala
XM_024453100.1:c.63329T>C (TTN)	XP_024308868.1:p.Val21110Ala