Canonical Allele Identifier: CA2497030189

Gene: LDLR LDLR-AS1

Linked Data

• ClinVar Variation Id: 1331894
• ClinVar RCV Id: RCV001804410
• dbSNP Id: rs879254371

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089410C>T , CM000681.2:g.11089410C>T	GRCh38
NC_000019.9:g.11200086C>T , CM000681.1:g.11200086C>T	GRCh37
NC_000019.8:g.11061086C>T	NCBI36
NG_009060.1:g.5030C>T , LRG_274:g.5030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558518.5:c.-139C>T (LDLR)	ENSP00000454071.1:n.-139C>T
NM_000527.4:c.-139C>T , LRG_274t1:c.-139C>T (LDLR)	NP_000518.1:n.-139C>T
NM_001195798.1:c.-139C>T (LDLR)	NP_001182727.1:n.-139C>T
NM_001195799.1:c.-139C>T (LDLR)	NP_001182728.1:n.-139C>T
NM_001195800.1:c.-139C>T (LDLR)	NP_001182729.1:n.-139C>T
NM_001195803.1:c.-139C>T (LDLR)	NP_001182732.1:n.-139C>T
XM_011528010.1:c.-139C>T (LDLR)	XP_011526312.1:n.-139C>T
XM_011528011.1:c.-139C>T (LDLR)	XP_011526313.1:n.-139C>T
XR_244074.2:n.12C>T (LDLR)
NR_163945.1:n.250G>A (LDLR-AS1)