Canonical Allele Identifier: CA037403

Gene: LDLR

Linked Data

• ClinVar Variation Id: 630374
• ClinVar RCV Id: RCV000775612 ; RCV004001454
• dbSNP Id: rs757672647
• ExAC: 19:11230834 G / A
• gnomAD v2: 19-11230834-G-A
• gnomAD v3: 19-11120158-G-A
• gnomAD v4: 19-11120158-G-A
• MyVariant Identifiers: chr19:g.11230834G>A (hg19) ; chr19:g.11120158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120158G>A , CM000681.2:g.11120158G>A	GRCh38
NC_000019.9:g.11230834G>A , CM000681.1:g.11230834G>A	GRCh37
NC_000019.8:g.11091834G>A	NCBI36
NG_009060.1:g.35778G>A , LRG_274:g.35778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2170G>A	ENSP00000252444.6:p.Asp724Asn
ENST00000559340.2:c.1772G>A	ENSP00000453696.2:p.Arg591Gln
ENST00000560467.2:c.1792G>A	ENSP00000453513.2:p.Asp598Asn
ENST00000558518.6:c.1912G>A MANE Select	ENSP00000454071.1:p.Asp638Asn
ENST00000252444.9:c.2166G>A
ENST00000455727.6:c.1408G>A	ENSP00000397829.2:p.Asp470Asn
ENST00000535915.5:c.1789G>A	ENSP00000440520.1:p.Asp597Asn
ENST00000545707.5:c.1531G>A	ENSP00000437639.1:p.Asp511Asn
ENST00000557933.5:c.1912G>A	ENSP00000453557.1:p.Asp638Asn
ENST00000558013.5:c.1912G>A	ENSP00000453346.1:p.Asp638Asn
ENST00000558518.5:c.1912G>A	ENSP00000454071.1:p.Asp638Asn
ENST00000559340.1:c.493G>A
NM_000527.4:c.1912G>A , LRG_274t1:c.1912G>A	NP_000518.1:p.Asp638Asn
NM_001195798.1:c.1912G>A	NP_001182727.1:p.Asp638Asn
NM_001195799.1:c.1789G>A	NP_001182728.1:p.Asp597Asn
NM_001195800.1:c.1408G>A	NP_001182729.1:p.Asp470Asn
NM_001195803.1:c.1531G>A	NP_001182732.1:p.Asp511Asn
XM_011528010.1:c.1912G>A	XP_011526312.1:p.Asp638Asn
XM_011528011.1:c.1531G>A	XP_011526313.1:p.Asp511Asn
XR_244074.2:n.1922G>A
XM_011528010.2:c.1912G>A	XP_011526312.1:p.Asp638Asn
XR_001753685.2:n.2029G>A
XR_001753686.2:n.1889G>A
NM_000527.5:c.1912G>A MANE Select	NP_000518.1:p.Asp638Asn
NM_001195798.2:c.1912G>A	NP_001182727.1:p.Asp638Asn
NM_001195799.2:c.1789G>A	NP_001182728.1:p.Asp597Asn
NM_001195800.2:c.1408G>A	NP_001182729.1:p.Asp470Asn
NM_001195803.2:c.1531G>A	NP_001182732.1:p.Asp511Asn