Canonical Allele Identifier: CA404096683
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1439234328
gnomAD v2: 19-11238701-G-A
gnomAD v4: 19-11128025-G-A
MyVariant Identifiers: chr19:g.11238701G>A (hg19) chr19:g.11128025G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128025G>A , CM000681.2:g.11128025G>A GRCh38
NC_000019.9:g.11238701G>A , CM000681.1:g.11238701G>A GRCh37
NC_000019.8:g.11099701G>A NCBI36
NG_009060.1:g.43645G>A , LRG_274:g.43645G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2587G>A ENSP00000252444.6:p.Gly863Ser
ENST00000559340.2:c.*398G>A ENSP00000453696.2:n.*398G>A
ENST00000560467.2:c.2209G>A ENSP00000453513.2:p.Gly737Ser
ENST00000558518.6:c.2329G>A MANE Select ENSP00000454071.1:p.Gly777Ser
ENST00000252444.9:c.2583G>A
ENST00000455727.6:c.1825G>A ENSP00000397829.2:p.Gly609Ser
ENST00000535915.5:c.2206G>A ENSP00000440520.1:p.Gly736Ser
ENST00000545707.5:c.1795G>A ENSP00000437639.1:p.Gly599Ser
ENST00000557933.5:c.2329G>A ENSP00000453557.1:p.Gly777Ser
ENST00000558013.5:c.2329G>A ENSP00000453346.1:p.Gly777Ser
ENST00000558518.5:c.2329G>A ENSP00000454071.1:p.Gly777Ser
ENST00000560628.1:n.108+371G>A
NM_000527.4:c.2329G>A , LRG_274t1:c.2329G>A NP_000518.1:p.Gly777Ser
NM_001195798.1:c.2329G>A NP_001182727.1:p.Gly777Ser
NM_001195799.1:c.2206G>A NP_001182728.1:p.Gly736Ser
NM_001195800.1:c.1825G>A NP_001182729.1:p.Gly609Ser
NM_001195803.1:c.1795G>A NP_001182732.1:p.Gly599Ser
XM_011528010.1:c.2312-1488G>A XP_011526312.1:n.2312-1488G>A
XM_011528011.1:c.1948G>A XP_011526313.1:p.Gly650Ser
XR_244074.2:n.2339G>A
XM_011528010.2:c.2312-1488G>A XP_011526312.1:n.2312-1488G>A
XR_001753685.2:n.2663G>A
XR_001753686.2:n.2306G>A
NM_000527.5:c.2329G>A MANE Select NP_000518.1:p.Gly777Ser
NM_001195798.2:c.2329G>A NP_001182727.1:p.Gly777Ser
NM_001195799.2:c.2206G>A NP_001182728.1:p.Gly736Ser
NM_001195800.2:c.1825G>A NP_001182729.1:p.Gly609Ser
NM_001195803.2:c.1795G>A NP_001182732.1:p.Gly599Ser
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