Canonical Allele Identifier: CA631763913
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1255900802
gnomAD v2: 19-11217391-C-G
gnomAD v4: 19-11106715-C-G
MyVariant Identifiers: chr19:g.11217391C>G (hg19) chr19:g.11106715C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106715C>G , CM000681.2:g.11106715C>G GRCh38
NC_000019.9:g.11217391C>G , CM000681.1:g.11217391C>G GRCh37
NC_000019.8:g.11078391C>G NCBI36
NG_009060.1:g.22335C>G , LRG_274:g.22335C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1075+28C>G ENSP00000252444.6:n.1075+28C>G
ENST00000559340.2:c.817+28C>G ENSP00000453696.2:n.817+28C>G
ENST00000560467.2:c.817+28C>G ENSP00000453513.2:n.817+28C>G
ENST00000558518.6:c.817+28C>G MANE Select ENSP00000454071.1:n.817+28C>G
ENST00000252444.9:c.1071+28C>G
ENST00000455727.6:c.314-677C>G ENSP00000397829.2:n.314-677C>G
ENST00000535915.5:c.694+28C>G ENSP00000440520.1:n.694+28C>G
ENST00000545707.5:c.436+28C>G ENSP00000437639.1:n.436+28C>G
ENST00000557933.5:c.817+28C>G ENSP00000453557.1:n.817+28C>G
ENST00000558013.5:c.817+28C>G ENSP00000453346.1:n.817+28C>G
ENST00000558518.5:c.817+28C>G ENSP00000454071.1:n.817+28C>G
ENST00000558528.1:n.332+28C>G
ENST00000560467.1:c.417+28C>G
NM_000527.4:c.817+28C>G , LRG_274t1:c.817+28C>G NP_000518.1:n.817+28C>G
NM_001195798.1:c.817+28C>G NP_001182727.1:n.817+28C>G
NM_001195799.1:c.694+28C>G NP_001182728.1:n.694+28C>G
NM_001195800.1:c.314-677C>G NP_001182729.1:n.314-677C>G
NM_001195803.1:c.436+28C>G NP_001182732.1:n.436+28C>G
XM_011528010.1:c.817+28C>G XP_011526312.1:n.817+28C>G
XM_011528011.1:c.436+28C>G XP_011526313.1:n.436+28C>G
XR_244074.2:n.967+28C>G
XM_011528010.2:c.817+28C>G XP_011526312.1:n.817+28C>G
XR_001753685.2:n.934+28C>G
XR_001753686.2:n.934+28C>G
NM_000527.5:c.817+28C>G MANE Select NP_000518.1:n.817+28C>G
NM_001195798.2:c.817+28C>G NP_001182727.1:n.817+28C>G
NM_001195799.2:c.694+28C>G NP_001182728.1:n.694+28C>G
NM_001195800.2:c.314-677C>G NP_001182729.1:n.314-677C>G
NM_001195803.2:c.436+28C>G NP_001182732.1:n.436+28C>G
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