Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11132295C= , CM000681.2:g.11132295C=	GRCh38
NC_000019.9:g.11242971C= , CM000681.1:g.11242971C=	GRCh37
NC_000019.8:g.11103971C=	NCBI36
NG_009060.1:g.47915C= , LRG_274:g.47915C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.*979C= (LDLR)	ENSP00000252444.6:n.*979C=
ENST00000559340.2:c.*1631C= (LDLR)	ENSP00000453696.2:n.*1631C=
ENST00000560467.2:c.*979C= (LDLR)	ENSP00000453513.2:n.*979C=
ENST00000558518.6:c.*979C= (LDLR) MANE Select	ENSP00000454071.1:n.*979C=
ENST00000252444.9:c.3816C= (LDLR)
ENST00000560628.1:n.109-800C= (LDLR)
ENST00000585567.5:c.540-688G= (SPC24)	ENSP00000468818.1:n.540-688G=
NM_000527.4:c.979C= , LRG_274t1:c.979C= (LDLR)	NP_000518.1:n.*979C=
NM_001195798.1:c.*979C= (LDLR)	NP_001182727.1:n.*979C=
NM_001195799.1:c.*979C= (LDLR)	NP_001182728.1:n.*979C=
NM_001195800.1:c.*979C= (LDLR)	NP_001182729.1:n.*979C=
NM_001195803.1:c.*979C= (LDLR)	NP_001182732.1:n.*979C=
XM_011528010.1:c.*979C= (LDLR)	XP_011526312.1:n.*979C=
XM_011528011.1:c.*979C= (LDLR)	XP_011526313.1:n.*979C=
XM_011528010.2:c.*979C= (LDLR)	XP_011526312.1:n.*979C=
XR_001753685.2:n.3896C= (LDLR)
XR_001753686.2:n.3539C= (LDLR)
NM_000527.5:c.*979C= (LDLR) MANE Select	NP_000518.1:n.*979C=
NM_001195798.2:c.*979C= (LDLR)	NP_001182727.1:n.*979C=
NM_001195799.2:c.*979C= (LDLR)	NP_001182728.1:n.*979C=
NM_001195800.2:c.*979C= (LDLR)	NP_001182729.1:n.*979C=
NM_001195803.2:c.*979C= (LDLR)	NP_001182732.1:n.*979C=