Canonical Allele Identifier: CA1987216

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs766706869
• ExAC: 2:179412358 T / A
• gnomAD v2: 2-179412358-T-A
• gnomAD v4: 2-178547631-T-A
• MyVariant Identifiers: chr2:g.179412358T>A (hg19) ; chr2:g.178547631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547631T>A , CM000664.2:g.178547631T>A	GRCh38
NC_000002.11:g.179412358T>A , CM000664.1:g.179412358T>A	GRCh37
NC_000002.10:g.179120604T>A	NCBI36
NG_011618.3:g.288172A>T , LRG_391:g.288172A>T
NG_051363.1:g.29805T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.86291A>T (TTN)	ENSP00000343764.6:p.Glu28764Val
ENST00000342175.11:c.67376A>T (TTN)	ENSP00000340554.6:p.Glu22459Val
ENST00000359218.10:c.67175A>T (TTN)	ENSP00000352154.5:p.Glu22392Val
ENST00000342175.10:c.67376A>T (TTN)	ENSP00000340554.6:p.Glu22459Val
ENST00000342992.10:c.86291A>T (TTN)	ENSP00000343764.6:p.Glu28764Val
ENST00000359218.9:c.67175A>T (TTN)	ENSP00000352154.5:p.Glu22392Val
ENST00000460472.6:c.66800A>T (TTN)	ENSP00000434586.1:p.Glu22267Val
ENST00000589042.5:c.93995A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31332Val
ENST00000591111.5:c.89072A>T (TTN)	ENSP00000465570.1:p.Glu29691Val
ENST00000615779.4:c.89072A>T (TTN)	ENSP00000483597.1:p.Glu29691Val
NM_001256850.1:c.89072A>T (TTN)	NP_001243779.1:p.Glu29691Val
NM_001267550.2:c.93995A>T (TTN) MANE Select	NP_001254479.2:p.Glu31332Val
NM_003319.4:c.66800A>T (TTN)	NP_003310.4:p.Glu22267Val
NM_133378.4:c.86291A>T (TTN)	NP_596869.4:p.Glu28764Val
NM_133432.3:c.67175A>T (TTN)	NP_597676.3:p.Glu22392Val
NM_133437.4:c.67376A>T (TTN)	NP_597681.4:p.Glu22459Val
NR_038271.1:n.447-23669T>A (TTN-AS1)
NR_038272.1:n.2043+5270T>A (TTN-AS1)
XM_011511729.1:c.93092A>T (TTN)	XP_011510031.1:p.Glu31031Val
XM_011511730.1:c.66986A>T (TTN)	XP_011510032.1:p.Glu22329Val
XM_011511731.1:c.66845A>T (TTN)	XP_011510033.1:p.Glu22282Val
XM_017004819.1:c.92888A>T (TTN)	XP_016860308.1:p.Glu30963Val
XM_017004820.1:c.88286A>T (TTN)	XP_016860309.1:p.Glu29429Val
XM_017004821.1:c.88283A>T (TTN)	XP_016860310.1:p.Glu29428Val
XM_017004822.1:c.85325A>T (TTN)	XP_016860311.1:p.Glu28442Val
XM_017004823.1:c.66941A>T (TTN)	XP_016860312.1:p.Glu22314Val
XM_024453094.1:c.88436A>T (TTN)	XP_024308862.1:p.Glu29479Val
XM_024453095.1:c.88433A>T (TTN)	XP_024308863.1:p.Glu29478Val
XM_024453096.1:c.87866A>T (TTN)	XP_024308864.1:p.Glu29289Val
XM_024453097.1:c.85208A>T (TTN)	XP_024308865.1:p.Glu28403Val
XM_024453098.1:c.85127A>T (TTN)	XP_024308866.1:p.Glu28376Val
XM_024453099.1:c.66890A>T (TTN)	XP_024308867.1:p.Glu22297Val
XM_024453100.1:c.56744A>T (TTN)	XP_024308868.1:p.Glu18915Val