Canonical Allele Identifier: CA404092519
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1330086
ClinVar RCV Id: RCV001801103 RCV004009067
dbSNP Id: rs879255064
gnomAD v4: 19-11120120-A-G
MyVariant Identifiers: chr19:g.11230796A>G (hg19) chr19:g.11120120A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120120A>G , CM000681.2:g.11120120A>G GRCh38
NC_000019.9:g.11230796A>G , CM000681.1:g.11230796A>G GRCh37
NC_000019.8:g.11091796A>G NCBI36
NG_009060.1:g.35740A>G , LRG_274:g.35740A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2132A>G ENSP00000252444.6:p.Asn711Ser
ENST00000559340.2:c.1734A>G ENSP00000453696.2:p.Gln578=
ENST00000560467.2:c.1754A>G ENSP00000453513.2:p.Asn585Ser
ENST00000558518.6:c.1874A>G MANE Select ENSP00000454071.1:p.Asn625Ser
ENST00000252444.9:c.2128A>G
ENST00000455727.6:c.1370A>G ENSP00000397829.2:p.Asn457Ser
ENST00000535915.5:c.1751A>G ENSP00000440520.1:p.Asn584Ser
ENST00000545707.5:c.1493A>G ENSP00000437639.1:p.Asn498Ser
ENST00000557933.5:c.1874A>G ENSP00000453557.1:p.Asn625Ser
ENST00000558013.5:c.1874A>G ENSP00000453346.1:p.Asn625Ser
ENST00000558518.5:c.1874A>G ENSP00000454071.1:p.Asn625Ser
ENST00000559340.1:c.455A>G
NM_000527.4:c.1874A>G , LRG_274t1:c.1874A>G NP_000518.1:p.Asn625Ser
NM_001195798.1:c.1874A>G NP_001182727.1:p.Asn625Ser
NM_001195799.1:c.1751A>G NP_001182728.1:p.Asn584Ser
NM_001195800.1:c.1370A>G NP_001182729.1:p.Asn457Ser
NM_001195803.1:c.1493A>G NP_001182732.1:p.Asn498Ser
XM_011528010.1:c.1874A>G XP_011526312.1:p.Asn625Ser
XM_011528011.1:c.1493A>G XP_011526313.1:p.Asn498Ser
XR_244074.2:n.1884A>G
XM_011528010.2:c.1874A>G XP_011526312.1:p.Asn625Ser
XR_001753685.2:n.1991A>G
XR_001753686.2:n.1851A>G
NM_000527.5:c.1874A>G MANE Select NP_000518.1:p.Asn625Ser
NM_001195798.2:c.1874A>G NP_001182727.1:p.Asn625Ser
NM_001195799.2:c.1751A>G NP_001182728.1:p.Asn584Ser
NM_001195800.2:c.1370A>G NP_001182729.1:p.Asn457Ser
NM_001195803.2:c.1493A>G NP_001182732.1:p.Asn498Ser
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