Canonical Allele Identifier: CA404084846
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224037C>G (hg19) chr19:g.11113361C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113361C>G , CM000681.2:g.11113361C>G GRCh38
NC_000019.9:g.11224037C>G , CM000681.1:g.11224037C>G GRCh37
NC_000019.8:g.11085037C>G NCBI36
NG_009060.1:g.28981C>G , LRG_274:g.28981C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1528C>G ENSP00000252444.6:p.Pro510Ala
ENST00000559340.2:c.1270C>G ENSP00000453696.2:p.Pro424Ala
ENST00000560467.2:c.1150C>G ENSP00000453513.2:p.Pro384Ala
ENST00000558518.6:c.1270C>G MANE Select ENSP00000454071.1:p.Pro424Ala
ENST00000252444.9:c.1524C>G
ENST00000455727.6:c.766C>G ENSP00000397829.2:p.Pro256Ala
ENST00000535915.5:c.1147C>G ENSP00000440520.1:p.Pro383Ala
ENST00000545707.5:c.889C>G ENSP00000437639.1:p.Pro297Ala
ENST00000557933.5:c.1270C>G ENSP00000453557.1:p.Pro424Ala
ENST00000558013.5:c.1270C>G ENSP00000453346.1:p.Pro424Ala
ENST00000558518.5:c.1270C>G ENSP00000454071.1:p.Pro424Ala
ENST00000560173.1:n.269C>G
ENST00000560467.1:c.750C>G
NM_000527.4:c.1270C>G , LRG_274t1:c.1270C>G NP_000518.1:p.Pro424Ala
NM_001195798.1:c.1270C>G NP_001182727.1:p.Pro424Ala
NM_001195799.1:c.1147C>G NP_001182728.1:p.Pro383Ala
NM_001195800.1:c.766C>G NP_001182729.1:p.Pro256Ala
NM_001195803.1:c.889C>G NP_001182732.1:p.Pro297Ala
XM_011528010.1:c.1270C>G XP_011526312.1:p.Pro424Ala
XM_011528011.1:c.889C>G XP_011526313.1:p.Pro297Ala
XR_244074.2:n.1420C>G
XM_011528010.2:c.1270C>G XP_011526312.1:p.Pro424Ala
XR_001753685.2:n.1387C>G
XR_001753686.2:n.1387C>G
NM_000527.5:c.1270C>G MANE Select NP_000518.1:p.Pro424Ala
NM_001195798.2:c.1270C>G NP_001182727.1:p.Pro424Ala
NM_001195799.2:c.1147C>G NP_001182728.1:p.Pro383Ala
NM_001195800.2:c.766C>G NP_001182729.1:p.Pro256Ala
NM_001195803.2:c.889C>G NP_001182732.1:p.Pro297Ala
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