Canonical Allele Identifier: CA030916
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926519
ClinVar RCV Id: RCV001189124
dbSNP Id: rs567080879
ExAC: 19:11221353 C / A
gnomAD v2: 19-11221353-C-A
gnomAD v4: 19-11110677-C-A
MyVariant Identifiers: chr19:g.11221353C>A (hg19) chr19:g.11110677C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110677C>A , CM000681.2:g.11110677C>A GRCh38
NC_000019.9:g.11221353C>A , CM000681.1:g.11221353C>A GRCh37
NC_000019.8:g.11082353C>A NCBI36
NG_009060.1:g.26297C>A , LRG_274:g.26297C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1224C>A ENSP00000252444.6:p.Asn408Lys
ENST00000559340.2:c.966C>A ENSP00000453696.2:p.Asn322Lys
ENST00000560467.2:c.941-837C>A ENSP00000453513.2:n.941-837C>A
ENST00000558518.6:c.966C>A MANE Select ENSP00000454071.1:p.Asn322Lys
ENST00000252444.9:c.1220C>A
ENST00000455727.6:c.462C>A ENSP00000397829.2:p.Asn154Lys
ENST00000535915.5:c.843C>A ENSP00000440520.1:p.Asn281Lys
ENST00000545707.5:c.585C>A ENSP00000437639.1:p.Asn195Lys
ENST00000557933.5:c.966C>A ENSP00000453557.1:p.Asn322Lys
ENST00000558013.5:c.966C>A ENSP00000453346.1:p.Asn322Lys
ENST00000558518.5:c.966C>A ENSP00000454071.1:p.Asn322Lys
ENST00000560467.1:c.541-837C>A
NM_000527.4:c.966C>A , LRG_274t1:c.966C>A NP_000518.1:p.Asn322Lys
NM_001195798.1:c.966C>A NP_001182727.1:p.Asn322Lys
NM_001195799.1:c.843C>A NP_001182728.1:p.Asn281Lys
NM_001195800.1:c.462C>A NP_001182729.1:p.Asn154Lys
NM_001195803.1:c.585C>A NP_001182732.1:p.Asn195Lys
XM_011528010.1:c.966C>A XP_011526312.1:p.Asn322Lys
XM_011528011.1:c.585C>A XP_011526313.1:p.Asn195Lys
XR_244074.2:n.1116C>A
XM_011528010.2:c.966C>A XP_011526312.1:p.Asn322Lys
XR_001753685.2:n.1083C>A
XR_001753686.2:n.1083C>A
NM_000527.5:c.966C>A MANE Select NP_000518.1:p.Asn322Lys
NM_001195798.2:c.966C>A NP_001182727.1:p.Asn322Lys
NM_001195799.2:c.843C>A NP_001182728.1:p.Asn281Lys
NM_001195800.2:c.462C>A NP_001182729.1:p.Asn154Lys
NM_001195803.2:c.585C>A NP_001182732.1:p.Asn195Lys
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