Canonical Allele Identifier: CA2579834361

Gene: LDLR LDLR-AS1

Linked Data

• gnomAD v4: 19-11089422-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089422G>A , CM000681.2:g.11089422G>A	GRCh38
NC_000019.9:g.11200098G>A , CM000681.1:g.11200098G>A	GRCh37
NC_000019.8:g.11061098G>A	NCBI36
NG_009060.1:g.5042G>A , LRG_274:g.5042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559340.2:c.-127G>A (LDLR)	ENSP00000453696.2:n.-127G>A
ENST00000558518.5:c.-127G>A (LDLR)	ENSP00000454071.1:n.-127G>A
NM_000527.4:c.-127G>A , LRG_274t1:c.-127G>A (LDLR)	NP_000518.1:n.-127G>A
NM_001195798.1:c.-127G>A (LDLR)	NP_001182727.1:n.-127G>A
NM_001195799.1:c.-127G>A (LDLR)	NP_001182728.1:n.-127G>A
NM_001195800.1:c.-127G>A (LDLR)	NP_001182729.1:n.-127G>A
NM_001195803.1:c.-127G>A (LDLR)	NP_001182732.1:n.-127G>A
XM_011528010.1:c.-127G>A (LDLR)	XP_011526312.1:n.-127G>A
XM_011528011.1:c.-127G>A (LDLR)	XP_011526313.1:n.-127G>A
XR_244074.2:n.24G>A (LDLR)
NR_163945.1:n.238C>T (LDLR-AS1)