Canonical Allele Identifier: CA404093739
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074471
ClinVar RCV Id: RCV004014005
gnomAD v4: 19-11120445-A-G
MyVariant Identifiers: chr19:g.11231121A>G (hg19) chr19:g.11120445A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120445A>G , CM000681.2:g.11120445A>G GRCh38
NC_000019.9:g.11231121A>G , CM000681.1:g.11231121A>G GRCh37
NC_000019.8:g.11092121A>G NCBI36
NG_009060.1:g.36065A>G , LRG_274:g.36065A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2321A>G ENSP00000252444.6:p.Asn774Ser
ENST00000559340.2:c.*132A>G ENSP00000453696.2:n.*132A>G
ENST00000560467.2:c.1943A>G ENSP00000453513.2:p.Asn648Ser
ENST00000558518.6:c.2063A>G MANE Select ENSP00000454071.1:p.Asn688Ser
ENST00000252444.9:c.2317A>G
ENST00000455727.6:c.1559A>G ENSP00000397829.2:p.Asn520Ser
ENST00000535915.5:c.1940A>G ENSP00000440520.1:p.Asn647Ser
ENST00000545707.5:c.1606+212A>G ENSP00000437639.1:n.1606+212A>G
ENST00000557933.5:c.2063A>G ENSP00000453557.1:p.Asn688Ser
ENST00000558013.5:c.2063A>G ENSP00000453346.1:p.Asn688Ser
ENST00000558518.5:c.2063A>G ENSP00000454071.1:p.Asn688Ser
NM_000527.4:c.2063A>G , LRG_274t1:c.2063A>G NP_000518.1:p.Asn688Ser
NM_001195798.1:c.2063A>G NP_001182727.1:p.Asn688Ser
NM_001195799.1:c.1940A>G NP_001182728.1:p.Asn647Ser
NM_001195800.1:c.1559A>G NP_001182729.1:p.Asn520Ser
NM_001195803.1:c.1606+212A>G NP_001182732.1:n.1606+212A>G
XM_011528010.1:c.2063A>G XP_011526312.1:p.Asn688Ser
XM_011528011.1:c.1682A>G XP_011526313.1:p.Asn561Ser
XR_244074.2:n.2073A>G
XM_011528010.2:c.2063A>G XP_011526312.1:p.Asn688Ser
XR_001753685.2:n.2180A>G
XR_001753686.2:n.2040A>G
NM_000527.5:c.2063A>G MANE Select NP_000518.1:p.Asn688Ser
NM_001195798.2:c.2063A>G NP_001182727.1:p.Asn688Ser
NM_001195799.2:c.1940A>G NP_001182728.1:p.Asn647Ser
NM_001195800.2:c.1559A>G NP_001182729.1:p.Asn520Ser
NM_001195803.2:c.1606+212A>G NP_001182732.1:n.1606+212A>G
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