Canonical Allele Identifier: CA305287316

Gene: LDLR LDLR-AS1

Linked Data

• dbSNP Id: rs565059558
• gnomAD v3: 19-11089417-T-C
• gnomAD v4: 19-11089417-T-C
• MyVariant Identifiers: chr19:g.11200093T>C (hg19) ; chr19:g.11089417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089417T>C , CM000681.2:g.11089417T>C	GRCh38
NC_000019.9:g.11200093T>C , CM000681.1:g.11200093T>C	GRCh37
NC_000019.8:g.11061093T>C	NCBI36
NG_009060.1:g.5037T>C , LRG_274:g.5037T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558518.5:c.-132T>C (LDLR)	ENSP00000454071.1:n.-132T>C
NM_000527.4:c.-132T>C , LRG_274t1:c.-132T>C (LDLR)	NP_000518.1:n.-132T>C
NM_001195798.1:c.-132T>C (LDLR)	NP_001182727.1:n.-132T>C
NM_001195799.1:c.-132T>C (LDLR)	NP_001182728.1:n.-132T>C
NM_001195800.1:c.-132T>C (LDLR)	NP_001182729.1:n.-132T>C
NM_001195803.1:c.-132T>C (LDLR)	NP_001182732.1:n.-132T>C
XM_011528010.1:c.-132T>C (LDLR)	XP_011526312.1:n.-132T>C
XM_011528011.1:c.-132T>C (LDLR)	XP_011526313.1:n.-132T>C
XR_244074.2:n.19T>C (LDLR)
NR_163945.1:n.243A>G (LDLR-AS1)