Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575056A>C , CM000664.2:g.178575056A>C	GRCh38
NC_000002.11:g.179439783A>C , CM000664.1:g.179439783A>C	GRCh37
NC_000002.10:g.179148029A>C	NCBI36
NG_011618.3:g.260747T>G , LRG_391:g.260747T>G
NG_051363.1:g.57230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.63372T>G (TTN)	ENSP00000343764.6:p.Asn21124Lys
ENST00000342175.11:c.44457T>G (TTN)	ENSP00000340554.6:p.Asn14819Lys
ENST00000359218.10:c.44256T>G (TTN)	ENSP00000352154.5:p.Asn14752Lys
ENST00000342175.10:c.44457T>G (TTN)	ENSP00000340554.6:p.Asn14819Lys
ENST00000342992.10:c.63372T>G (TTN)	ENSP00000343764.6:p.Asn21124Lys
ENST00000359218.9:c.44256T>G (TTN)	ENSP00000352154.5:p.Asn14752Lys
ENST00000460472.6:c.43881T>G (TTN)	ENSP00000434586.1:p.Asn14627Lys
ENST00000589042.5:c.71076T>G (TTN) MANE Select	ENSP00000467141.1:p.Asn23692Lys
ENST00000591111.5:c.66153T>G (TTN)	ENSP00000465570.1:p.Asn22051Lys
ENST00000615779.4:c.66153T>G (TTN)	ENSP00000483597.1:p.Asn22051Lys
NM_001256850.1:c.66153T>G (TTN)	NP_001243779.1:p.Asn22051Lys
NM_001267550.2:c.71076T>G (TTN) MANE Select	NP_001254479.2:p.Asn23692Lys
NM_003319.4:c.43881T>G (TTN)	NP_003310.4:p.Asn14627Lys
NM_133378.4:c.63372T>G (TTN)	NP_596869.4:p.Asn21124Lys
NM_133432.3:c.44256T>G (TTN)	NP_597676.3:p.Asn14752Lys
NM_133437.4:c.44457T>G (TTN)	NP_597681.4:p.Asn14819Lys
NR_038271.1:n.596+3607A>C (TTN-AS1)
NR_038272.1:n.2044-7516A>C (TTN-AS1)
XM_011511729.1:c.70173T>G (TTN)	XP_011510031.1:p.Asn23391Lys
XM_011511730.1:c.44067T>G (TTN)	XP_011510032.1:p.Asn14689Lys
XM_011511731.1:c.43926T>G (TTN)	XP_011510033.1:p.Asn14642Lys
XM_017004819.1:c.69969T>G (TTN)	XP_016860308.1:p.Asn23323Lys
XM_017004820.1:c.65367T>G (TTN)	XP_016860309.1:p.Asn21789Lys
XM_017004821.1:c.65364T>G (TTN)	XP_016860310.1:p.Asn21788Lys
XM_017004822.1:c.62406T>G (TTN)	XP_016860311.1:p.Asn20802Lys
XM_017004823.1:c.44022T>G (TTN)	XP_016860312.1:p.Asn14674Lys
XM_024453094.1:c.65517T>G (TTN)	XP_024308862.1:p.Asn21839Lys
XM_024453095.1:c.65514T>G (TTN)	XP_024308863.1:p.Asn21838Lys
XM_024453096.1:c.64947T>G (TTN)	XP_024308864.1:p.Asn21649Lys
XM_024453097.1:c.62289T>G (TTN)	XP_024308865.1:p.Asn20763Lys
XM_024453098.1:c.62208T>G (TTN)	XP_024308866.1:p.Asn20736Lys
XM_024453099.1:c.43971T>G (TTN)	XP_024308867.1:p.Asn14657Lys
XM_024453100.1:c.33825T>G (TTN)	XP_024308868.1:p.Asn11275Lys