Canonical Allele Identifier: CA349612859

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433830C>A (hg19) ; chr2:g.178569103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569103C>A , CM000664.2:g.178569103C>A	GRCh38
NC_000002.11:g.179433830C>A , CM000664.1:g.179433830C>A	GRCh37
NC_000002.10:g.179142076C>A	NCBI36
NG_011618.3:g.266700G>T , LRG_391:g.266700G>T
NG_051363.1:g.51277C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69325G>T (TTN)	ENSP00000343764.6:p.Ala23109Ser
ENST00000342175.11:c.50410G>T (TTN)	ENSP00000340554.6:p.Ala16804Ser
ENST00000359218.10:c.50209G>T (TTN)	ENSP00000352154.5:p.Ala16737Ser
ENST00000342175.10:c.50410G>T (TTN)	ENSP00000340554.6:p.Ala16804Ser
ENST00000342992.10:c.69325G>T (TTN)	ENSP00000343764.6:p.Ala23109Ser
ENST00000359218.9:c.50209G>T (TTN)	ENSP00000352154.5:p.Ala16737Ser
ENST00000460472.6:c.49834G>T (TTN)	ENSP00000434586.1:p.Ala16612Ser
ENST00000589042.5:c.77029G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala25677Ser
ENST00000591111.5:c.72106G>T (TTN)	ENSP00000465570.1:p.Ala24036Ser
ENST00000615779.4:c.72106G>T (TTN)	ENSP00000483597.1:p.Ala24036Ser
NM_001256850.1:c.72106G>T (TTN)	NP_001243779.1:p.Ala24036Ser
NM_001267550.2:c.77029G>T (TTN) MANE Select	NP_001254479.2:p.Ala25677Ser
NM_003319.4:c.49834G>T (TTN)	NP_003310.4:p.Ala16612Ser
NM_133378.4:c.69325G>T (TTN)	NP_596869.4:p.Ala23109Ser
NM_133432.3:c.50209G>T (TTN)	NP_597676.3:p.Ala16737Ser
NM_133437.4:c.50410G>T (TTN)	NP_597681.4:p.Ala16804Ser
NR_038271.1:n.447-2197C>A (TTN-AS1)
NR_038272.1:n.2044-13469C>A (TTN-AS1)
XM_011511729.1:c.76126G>T (TTN)	XP_011510031.1:p.Ala25376Ser
XM_011511730.1:c.50020G>T (TTN)	XP_011510032.1:p.Ala16674Ser
XM_011511731.1:c.49879G>T (TTN)	XP_011510033.1:p.Ala16627Ser
XM_017004819.1:c.75922G>T (TTN)	XP_016860308.1:p.Ala25308Ser
XM_017004820.1:c.71320G>T (TTN)	XP_016860309.1:p.Ala23774Ser
XM_017004821.1:c.71317G>T (TTN)	XP_016860310.1:p.Ala23773Ser
XM_017004822.1:c.68359G>T (TTN)	XP_016860311.1:p.Ala22787Ser
XM_017004823.1:c.49975G>T (TTN)	XP_016860312.1:p.Ala16659Ser
XM_024453094.1:c.71470G>T (TTN)	XP_024308862.1:p.Ala23824Ser
XM_024453095.1:c.71467G>T (TTN)	XP_024308863.1:p.Ala23823Ser
XM_024453096.1:c.70900G>T (TTN)	XP_024308864.1:p.Ala23634Ser
XM_024453097.1:c.68242G>T (TTN)	XP_024308865.1:p.Ala22748Ser
XM_024453098.1:c.68161G>T (TTN)	XP_024308866.1:p.Ala22721Ser
XM_024453099.1:c.49924G>T (TTN)	XP_024308867.1:p.Ala16642Ser
XM_024453100.1:c.39778G>T (TTN)	XP_024308868.1:p.Ala13260Ser