Canonical Allele Identifier: CA993517294

Gene: LDLR LDLR-AS1

Linked Data

• ClinVar Variation Id: 1384164
• ClinVar RCV Id: RCV001895796
• dbSNP Id: rs2077054466
• gnomAD v3: 19-11089362-C-T
• gnomAD v4: 19-11089362-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089362C>T , CM000681.2:g.11089362C>T	GRCh38
NC_000019.9:g.11200038C>T , CM000681.1:g.11200038C>T	GRCh37
NC_000019.8:g.11061038C>T	NCBI36
NG_009060.1:g.4982C>T , LRG_274:g.4982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558518.5:c.-187C>T (LDLR)	ENSP00000454071.1:n.-187C>T
NM_000527.4:c.-187C>T , LRG_274t1:c.-187C>T (LDLR)	NP_000518.1:n.-187C>T
NM_001195798.1:c.-187C>T (LDLR)	NP_001182727.1:n.-187C>T
NM_001195799.1:c.-187C>T (LDLR)	NP_001182728.1:n.-187C>T
NM_001195800.1:c.-187C>T (LDLR)	NP_001182729.1:n.-187C>T
NM_001195803.1:c.-187C>T (LDLR)	NP_001182732.1:n.-187C>T
NR_163945.1:n.298G>A (LDLR-AS1)