Canonical Allele Identifier: CA033349

Gene: LDLR

Linked Data

• ClinVar Variation Id: 926524
• ClinVar RCV Id: RCV003396798
• dbSNP Id: rs752942769
• ExAC: 19:11224030 C / A
• gnomAD v2: 19-11224030-C-A
• gnomAD v3: 19-11113354-C-A
• gnomAD v4: 19-11113354-C-A
• MyVariant Identifiers: chr19:g.11224030C>A (hg19) ; chr19:g.11113354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113354C>A , CM000681.2:g.11113354C>A	GRCh38
NC_000019.9:g.11224030C>A , CM000681.1:g.11224030C>A	GRCh37
NC_000019.8:g.11085030C>A	NCBI36
NG_009060.1:g.28974C>A , LRG_274:g.28974C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1521C>A	ENSP00000252444.6:p.Ser507Arg
ENST00000559340.2:c.1263C>A	ENSP00000453696.2:p.Ser421Arg
ENST00000560467.2:c.1143C>A	ENSP00000453513.2:p.Ser381Arg
ENST00000558518.6:c.1263C>A MANE Select	ENSP00000454071.1:p.Ser421Arg
ENST00000252444.9:c.1517C>A
ENST00000455727.6:c.759C>A	ENSP00000397829.2:p.Ser253Arg
ENST00000535915.5:c.1140C>A	ENSP00000440520.1:p.Ser380Arg
ENST00000545707.5:c.882C>A	ENSP00000437639.1:p.Ser294Arg
ENST00000557933.5:c.1263C>A	ENSP00000453557.1:p.Ser421Arg
ENST00000558013.5:c.1263C>A	ENSP00000453346.1:p.Ser421Arg
ENST00000558518.5:c.1263C>A	ENSP00000454071.1:p.Ser421Arg
ENST00000560173.1:n.262C>A
ENST00000560467.1:c.743C>A
NM_000527.4:c.1263C>A , LRG_274t1:c.1263C>A	NP_000518.1:p.Ser421Arg
NM_001195798.1:c.1263C>A	NP_001182727.1:p.Ser421Arg
NM_001195799.1:c.1140C>A	NP_001182728.1:p.Ser380Arg
NM_001195800.1:c.759C>A	NP_001182729.1:p.Ser253Arg
NM_001195803.1:c.882C>A	NP_001182732.1:p.Ser294Arg
XM_011528010.1:c.1263C>A	XP_011526312.1:p.Ser421Arg
XM_011528011.1:c.882C>A	XP_011526313.1:p.Ser294Arg
XR_244074.2:n.1413C>A
XM_011528010.2:c.1263C>A	XP_011526312.1:p.Ser421Arg
XR_001753685.2:n.1380C>A
XR_001753686.2:n.1380C>A
NM_000527.5:c.1263C>A MANE Select	NP_000518.1:p.Ser421Arg
NM_001195798.2:c.1263C>A	NP_001182727.1:p.Ser421Arg
NM_001195799.2:c.1140C>A	NP_001182728.1:p.Ser380Arg
NM_001195800.2:c.759C>A	NP_001182729.1:p.Ser253Arg
NM_001195803.2:c.882C>A	NP_001182732.1:p.Ser294Arg