Canonical Allele Identifier: CA2579834351

Gene: LDLR LDLR-AS1

Linked Data

• gnomAD v4: 19-11089419-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089419C>T , CM000681.2:g.11089419C>T	GRCh38
NC_000019.9:g.11200095C>T , CM000681.1:g.11200095C>T	GRCh37
NC_000019.8:g.11061095C>T	NCBI36
NG_009060.1:g.5039C>T , LRG_274:g.5039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559340.2:c.-130C>T (LDLR)	ENSP00000453696.2:n.-130C>T
ENST00000558518.5:c.-130C>T (LDLR)	ENSP00000454071.1:n.-130C>T
NM_000527.4:c.-130C>T , LRG_274t1:c.-130C>T (LDLR)	NP_000518.1:n.-130C>T
NM_001195798.1:c.-130C>T (LDLR)	NP_001182727.1:n.-130C>T
NM_001195799.1:c.-130C>T (LDLR)	NP_001182728.1:n.-130C>T
NM_001195800.1:c.-130C>T (LDLR)	NP_001182729.1:n.-130C>T
NM_001195803.1:c.-130C>T (LDLR)	NP_001182732.1:n.-130C>T
XM_011528010.1:c.-130C>T (LDLR)	XP_011526312.1:n.-130C>T
XM_011528011.1:c.-130C>T (LDLR)	XP_011526313.1:n.-130C>T
XR_244074.2:n.21C>T (LDLR)
NR_163945.1:n.241G>A (LDLR-AS1)