Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531426A= , CM000664.2:g.178531426A=	GRCh38
NC_000002.11:g.179396153A= , CM000664.1:g.179396153A=	GRCh37
NC_000002.10:g.179104399A=	NCBI36
NG_011618.3:g.304377T= , LRG_391:g.304377T=
NG_051363.1:g.13600A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.105189T= (TTN) MANE Select	NP_001254479.2:p.Ala35063=
ENST00000589042.5:c.105189T= (TTN) MANE Select	ENSP00000467141.1:p.Ala35063=
NM_001256850.1:c.100266T= (TTN)	NP_001243779.1:p.Ala33422=
NM_003319.4:c.77994T= (TTN)	NP_003310.4:p.Ala25998=
NM_133378.4:c.97485T= (TTN)	NP_596869.4:p.Ala32495=
NM_133432.3:c.78369T= (TTN)	NP_597676.3:p.Ala26123=
NM_133437.4:c.78570T= (TTN)	NP_597681.4:p.Ala26190=
NR_038271.1:n.446+7790A= (TTN-AS1)
NR_038272.1:n.220-4306A= (TTN-AS1)
ENST00000342175.10:c.78570T= (TTN)	ENSP00000340554.6:p.Ala26190=
ENST00000342175.11:c.78570T= (TTN)	ENSP00000340554.6:p.Ala26190=
ENST00000342992.10:c.97485T= (TTN)	ENSP00000343764.6:p.Ala32495=
ENST00000342992.11:c.97485T= (TTN)	ENSP00000343764.6:p.Ala32495=
ENST00000359218.10:c.78369T= (TTN)	ENSP00000352154.5:p.Ala26123=
ENST00000359218.9:c.78369T= (TTN)	ENSP00000352154.5:p.Ala26123=
ENST00000460472.6:c.77994T= (TTN)	ENSP00000434586.1:p.Ala25998=
ENST00000591111.5:c.100266T= (TTN)	ENSP00000465570.1:p.Ala33422=
ENST00000615779.4:c.100266T= (TTN)	ENSP00000483597.1:p.Ala33422=
XM_011511729.1:c.104286T= (TTN)	XP_011510031.1:p.Ala34762=
XM_011511730.1:c.78180T= (TTN)	XP_011510032.1:p.Ala26060=
XM_011511731.1:c.78039T= (TTN)	XP_011510033.1:p.Ala26013=
XM_017004819.1:c.104082T= (TTN)	XP_016860308.1:p.Ala34694=
XM_017004820.1:c.99480T= (TTN)	XP_016860309.1:p.Ala33160=
XM_017004821.1:c.99477T= (TTN)	XP_016860310.1:p.Ala33159=
XM_017004822.1:c.96519T= (TTN)	XP_016860311.1:p.Ala32173=
XM_017004823.1:c.78135T= (TTN)	XP_016860312.1:p.Ala26045=
XM_024453094.1:c.99630T= (TTN)	XP_024308862.1:p.Ala33210=
XM_024453095.1:c.99627T= (TTN)	XP_024308863.1:p.Ala33209=
XM_024453096.1:c.99060T= (TTN)	XP_024308864.1:p.Ala33020=
XM_024453097.1:c.96402T= (TTN)	XP_024308865.1:p.Ala32134=
XM_024453098.1:c.96321T= (TTN)	XP_024308866.1:p.Ala32107=
XM_024453099.1:c.78084T= (TTN)	XP_024308867.1:p.Ala26028=
XM_024453100.1:c.67938T= (TTN)	XP_024308868.1:p.Ala22646=