Canonical Allele Identifier: CA60977073

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs267599028
• MyVariant Identifiers: chr2:g.179416401G>A (hg19) ; chr2:g.178551674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551674G>A , CM000664.2:g.178551674G>A	GRCh38
NC_000002.11:g.179416401G>A , CM000664.1:g.179416401G>A	GRCh37
NC_000002.10:g.179124647G>A	NCBI36
NG_011618.3:g.284129C>T , LRG_391:g.284129C>T
NG_051363.1:g.33848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83522C>T (TTN)	ENSP00000343764.6:p.Ser27841Leu
ENST00000342175.11:c.64607C>T (TTN)	ENSP00000340554.6:p.Ser21536Leu
ENST00000359218.10:c.64406C>T (TTN)	ENSP00000352154.5:p.Ser21469Leu
ENST00000342175.10:c.64607C>T (TTN)	ENSP00000340554.6:p.Ser21536Leu
ENST00000342992.10:c.83522C>T (TTN)	ENSP00000343764.6:p.Ser27841Leu
ENST00000359218.9:c.64406C>T (TTN)	ENSP00000352154.5:p.Ser21469Leu
ENST00000460472.6:c.64031C>T (TTN)	ENSP00000434586.1:p.Ser21344Leu
ENST00000589042.5:c.91226C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser30409Leu
ENST00000591111.5:c.86303C>T (TTN)	ENSP00000465570.1:p.Ser28768Leu
ENST00000615779.4:c.86303C>T (TTN)	ENSP00000483597.1:p.Ser28768Leu
NM_001256850.1:c.86303C>T (TTN)	NP_001243779.1:p.Ser28768Leu
NM_001267550.2:c.91226C>T (TTN) MANE Select	NP_001254479.2:p.Ser30409Leu
NM_003319.4:c.64031C>T (TTN)	NP_003310.4:p.Ser21344Leu
NM_133378.4:c.83522C>T (TTN)	NP_596869.4:p.Ser27841Leu
NM_133432.3:c.64406C>T (TTN)	NP_597676.3:p.Ser21469Leu
NM_133437.4:c.64607C>T (TTN)	NP_597681.4:p.Ser21536Leu
NR_038271.1:n.447-19626G>A (TTN-AS1)
NR_038272.1:n.2043+9313G>A (TTN-AS1)
XM_011511729.1:c.90323C>T (TTN)	XP_011510031.1:p.Ser30108Leu
XM_011511730.1:c.64217C>T (TTN)	XP_011510032.1:p.Ser21406Leu
XM_011511731.1:c.64076C>T (TTN)	XP_011510033.1:p.Ser21359Leu
XM_017004819.1:c.90119C>T (TTN)	XP_016860308.1:p.Ser30040Leu
XM_017004820.1:c.85517C>T (TTN)	XP_016860309.1:p.Ser28506Leu
XM_017004821.1:c.85514C>T (TTN)	XP_016860310.1:p.Ser28505Leu
XM_017004822.1:c.82556C>T (TTN)	XP_016860311.1:p.Ser27519Leu
XM_017004823.1:c.64172C>T (TTN)	XP_016860312.1:p.Ser21391Leu
XM_024453094.1:c.85667C>T (TTN)	XP_024308862.1:p.Ser28556Leu
XM_024453095.1:c.85664C>T (TTN)	XP_024308863.1:p.Ser28555Leu
XM_024453096.1:c.85097C>T (TTN)	XP_024308864.1:p.Ser28366Leu
XM_024453097.1:c.82439C>T (TTN)	XP_024308865.1:p.Ser27480Leu
XM_024453098.1:c.82358C>T (TTN)	XP_024308866.1:p.Ser27453Leu
XM_024453099.1:c.64121C>T (TTN)	XP_024308867.1:p.Ser21374Leu
XM_024453100.1:c.53975C>T (TTN)	XP_024308868.1:p.Ser17992Leu