Canonical Allele Identifier: CA404083642

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3070315
• ClinVar RCV Id: RCV004011833
• dbSNP Id: rs2077377560
• gnomAD v4: 19-11111587-G-C
• MyVariant Identifiers: chr19:g.11222263G>C (hg19) ; chr19:g.11111587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111587G>C , CM000681.2:g.11111587G>C	GRCh38
NC_000019.9:g.11222263G>C , CM000681.1:g.11222263G>C	GRCh37
NC_000019.8:g.11083263G>C	NCBI36
NG_009060.1:g.27207G>C , LRG_274:g.27207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1392G>C	ENSP00000252444.6:p.Gln464His
ENST00000559340.2:c.1134G>C	ENSP00000453696.2:p.Gln378His
ENST00000560467.2:c.1014G>C	ENSP00000453513.2:p.Gln338His
ENST00000558518.6:c.1134G>C MANE Select	ENSP00000454071.1:p.Gln378His
ENST00000252444.9:c.1388G>C
ENST00000455727.6:c.630G>C	ENSP00000397829.2:p.Gln210His
ENST00000535915.5:c.1011G>C	ENSP00000440520.1:p.Gln337His
ENST00000545707.5:c.753G>C	ENSP00000437639.1:p.Gln251His
ENST00000557933.5:c.1134G>C	ENSP00000453557.1:p.Gln378His
ENST00000558013.5:c.1134G>C	ENSP00000453346.1:p.Gln378His
ENST00000558518.5:c.1134G>C	ENSP00000454071.1:p.Gln378His
ENST00000560173.1:n.133G>C
ENST00000560467.1:c.614G>C
NM_000527.4:c.1134G>C , LRG_274t1:c.1134G>C	NP_000518.1:p.Gln378His
NM_001195798.1:c.1134G>C	NP_001182727.1:p.Gln378His
NM_001195799.1:c.1011G>C	NP_001182728.1:p.Gln337His
NM_001195800.1:c.630G>C	NP_001182729.1:p.Gln210His
NM_001195803.1:c.753G>C	NP_001182732.1:p.Gln251His
XM_011528010.1:c.1134G>C	XP_011526312.1:p.Gln378His
XM_011528011.1:c.753G>C	XP_011526313.1:p.Gln251His
XR_244074.2:n.1284G>C
XM_011528010.2:c.1134G>C	XP_011526312.1:p.Gln378His
XR_001753685.2:n.1251G>C
XR_001753686.2:n.1251G>C
NM_000527.5:c.1134G>C MANE Select	NP_000518.1:p.Gln378His
NM_001195798.2:c.1134G>C	NP_001182727.1:p.Gln378His
NM_001195799.2:c.1011G>C	NP_001182728.1:p.Gln337His
NM_001195800.2:c.630G>C	NP_001182729.1:p.Gln210His
NM_001195803.2:c.753G>C	NP_001182732.1:p.Gln251His