Canonical Allele Identifier: CA349406124

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530297-C-A
• MyVariant Identifiers: chr2:g.179395024C>A (hg19) ; chr2:g.178530297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530297C>A , CM000664.2:g.178530297C>A	GRCh38
NC_000002.11:g.179395024C>A , CM000664.1:g.179395024C>A	GRCh37
NC_000002.10:g.179103270C>A	NCBI36
NG_011618.3:g.305506G>T , LRG_391:g.305506G>T
NG_051363.1:g.12471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98614G>T (TTN)	ENSP00000343764.6:p.Ala32872Ser
ENST00000342175.11:c.79699G>T (TTN)	ENSP00000340554.6:p.Ala26567Ser
ENST00000359218.10:c.79498G>T (TTN)	ENSP00000352154.5:p.Ala26500Ser
ENST00000342175.10:c.79699G>T (TTN)	ENSP00000340554.6:p.Ala26567Ser
ENST00000342992.10:c.98614G>T (TTN)	ENSP00000343764.6:p.Ala32872Ser
ENST00000359218.9:c.79498G>T (TTN)	ENSP00000352154.5:p.Ala26500Ser
ENST00000460472.6:c.79123G>T (TTN)	ENSP00000434586.1:p.Ala26375Ser
ENST00000589042.5:c.106318G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala35440Ser
ENST00000591111.5:c.101395G>T (TTN)	ENSP00000465570.1:p.Ala33799Ser
ENST00000615779.4:c.101395G>T (TTN)	ENSP00000483597.1:p.Ala33799Ser
NM_001256850.1:c.101395G>T (TTN)	NP_001243779.1:p.Ala33799Ser
NM_001267550.2:c.106318G>T (TTN) MANE Select	NP_001254479.2:p.Ala35440Ser
NM_003319.4:c.79123G>T (TTN)	NP_003310.4:p.Ala26375Ser
NM_133378.4:c.98614G>T (TTN)	NP_596869.4:p.Ala32872Ser
NM_133432.3:c.79498G>T (TTN)	NP_597676.3:p.Ala26500Ser
NM_133437.4:c.79699G>T (TTN)	NP_597681.4:p.Ala26567Ser
NR_038271.1:n.446+6661C>A (TTN-AS1)
NR_038272.1:n.220-5435C>A (TTN-AS1)
XM_011511729.1:c.105415G>T (TTN)	XP_011510031.1:p.Ala35139Ser
XM_011511730.1:c.79309G>T (TTN)	XP_011510032.1:p.Ala26437Ser
XM_011511731.1:c.79168G>T (TTN)	XP_011510033.1:p.Ala26390Ser
XM_017004819.1:c.105211G>T (TTN)	XP_016860308.1:p.Ala35071Ser
XM_017004820.1:c.100609G>T (TTN)	XP_016860309.1:p.Ala33537Ser
XM_017004821.1:c.100606G>T (TTN)	XP_016860310.1:p.Ala33536Ser
XM_017004822.1:c.97648G>T (TTN)	XP_016860311.1:p.Ala32550Ser
XM_017004823.1:c.79264G>T (TTN)	XP_016860312.1:p.Ala26422Ser
XM_024453094.1:c.100759G>T (TTN)	XP_024308862.1:p.Ala33587Ser
XM_024453095.1:c.100756G>T (TTN)	XP_024308863.1:p.Ala33586Ser
XM_024453096.1:c.100189G>T (TTN)	XP_024308864.1:p.Ala33397Ser
XM_024453097.1:c.97531G>T (TTN)	XP_024308865.1:p.Ala32511Ser
XM_024453098.1:c.97450G>T (TTN)	XP_024308866.1:p.Ala32484Ser
XM_024453099.1:c.79213G>T (TTN)	XP_024308867.1:p.Ala26405Ser
XM_024453100.1:c.69067G>T (TTN)	XP_024308868.1:p.Ala23023Ser