Canonical Allele Identifier: CA349490004

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178548756-G-A
• MyVariant Identifiers: chr2:g.179413483G>A (hg19) ; chr2:g.178548756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548756G>A , CM000664.2:g.178548756G>A	GRCh38
NC_000002.11:g.179413483G>A , CM000664.1:g.179413483G>A	GRCh37
NC_000002.10:g.179121729G>A	NCBI36
NG_011618.3:g.287047C>T , LRG_391:g.287047C>T
NG_051363.1:g.30930G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85166C>T (TTN)	ENSP00000343764.6:p.Ala28389Val
ENST00000342175.11:c.66251C>T (TTN)	ENSP00000340554.6:p.Ala22084Val
ENST00000359218.10:c.66050C>T (TTN)	ENSP00000352154.5:p.Ala22017Val
ENST00000342175.10:c.66251C>T (TTN)	ENSP00000340554.6:p.Ala22084Val
ENST00000342992.10:c.85166C>T (TTN)	ENSP00000343764.6:p.Ala28389Val
ENST00000359218.9:c.66050C>T (TTN)	ENSP00000352154.5:p.Ala22017Val
ENST00000460472.6:c.65675C>T (TTN)	ENSP00000434586.1:p.Ala21892Val
ENST00000589042.5:c.92870C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala30957Val
ENST00000591111.5:c.87947C>T (TTN)	ENSP00000465570.1:p.Ala29316Val
ENST00000615779.4:c.87947C>T (TTN)	ENSP00000483597.1:p.Ala29316Val
NM_001256850.1:c.87947C>T (TTN)	NP_001243779.1:p.Ala29316Val
NM_001267550.2:c.92870C>T (TTN) MANE Select	NP_001254479.2:p.Ala30957Val
NM_003319.4:c.65675C>T (TTN)	NP_003310.4:p.Ala21892Val
NM_133378.4:c.85166C>T (TTN)	NP_596869.4:p.Ala28389Val
NM_133432.3:c.66050C>T (TTN)	NP_597676.3:p.Ala22017Val
NM_133437.4:c.66251C>T (TTN)	NP_597681.4:p.Ala22084Val
NR_038271.1:n.447-22544G>A (TTN-AS1)
NR_038272.1:n.2043+6395G>A (TTN-AS1)
XM_011511729.1:c.91967C>T (TTN)	XP_011510031.1:p.Ala30656Val
XM_011511730.1:c.65861C>T (TTN)	XP_011510032.1:p.Ala21954Val
XM_011511731.1:c.65720C>T (TTN)	XP_011510033.1:p.Ala21907Val
XM_017004819.1:c.91763C>T (TTN)	XP_016860308.1:p.Ala30588Val
XM_017004820.1:c.87161C>T (TTN)	XP_016860309.1:p.Ala29054Val
XM_017004821.1:c.87158C>T (TTN)	XP_016860310.1:p.Ala29053Val
XM_017004822.1:c.84200C>T (TTN)	XP_016860311.1:p.Ala28067Val
XM_017004823.1:c.65816C>T (TTN)	XP_016860312.1:p.Ala21939Val
XM_024453094.1:c.87311C>T (TTN)	XP_024308862.1:p.Ala29104Val
XM_024453095.1:c.87308C>T (TTN)	XP_024308863.1:p.Ala29103Val
XM_024453096.1:c.86741C>T (TTN)	XP_024308864.1:p.Ala28914Val
XM_024453097.1:c.84083C>T (TTN)	XP_024308865.1:p.Ala28028Val
XM_024453098.1:c.84002C>T (TTN)	XP_024308866.1:p.Ala28001Val
XM_024453099.1:c.65765C>T (TTN)	XP_024308867.1:p.Ala21922Val
XM_024453100.1:c.55619C>T (TTN)	XP_024308868.1:p.Ala18540Val