Canonical Allele Identifier: CA404099947
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240341C>G (hg19) chr19:g.11129665C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129665C>G , CM000681.2:g.11129665C>G GRCh38
NC_000019.9:g.11240341C>G , CM000681.1:g.11240341C>G GRCh37
NC_000019.8:g.11101341C>G NCBI36
NG_009060.1:g.45285C>G , LRG_274:g.45285C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2800C>G ENSP00000252444.6:p.Pro934Ala
ENST00000559340.2:c.*611C>G ENSP00000453696.2:n.*611C>G
ENST00000560467.2:c.2422C>G ENSP00000453513.2:p.Pro808Ala
ENST00000558518.6:c.2542C>G MANE Select ENSP00000454071.1:p.Pro848Ala
ENST00000252444.9:c.2796C>G
ENST00000455727.6:c.2038C>G ENSP00000397829.2:p.Pro680Ala
ENST00000535915.5:c.2419C>G ENSP00000440520.1:p.Pro807Ala
ENST00000545707.5:c.2008C>G ENSP00000437639.1:p.Pro670Ala
ENST00000557933.5:c.2604C>G ENSP00000453557.1:p.Thr868=
ENST00000558013.5:c.2542C>G ENSP00000453346.1:p.Pro848Ala
ENST00000558518.5:c.2542C>G ENSP00000454071.1:p.Pro848Ala
ENST00000560628.1:n.108+2011C>G
NM_000527.4:c.2542C>G , LRG_274t1:c.2542C>G NP_000518.1:p.Pro848Ala
NM_001195798.1:c.2542C>G NP_001182727.1:p.Pro848Ala
NM_001195799.1:c.2419C>G NP_001182728.1:p.Pro807Ala
NM_001195800.1:c.2038C>G NP_001182729.1:p.Pro680Ala
NM_001195803.1:c.2008C>G NP_001182732.1:p.Pro670Ala
XM_011528010.1:c.2464C>G XP_011526312.1:p.Pro822Ala
XM_011528011.1:c.2161C>G XP_011526313.1:p.Pro721Ala
XM_011528010.2:c.2464C>G XP_011526312.1:p.Pro822Ala
XR_001753685.2:n.2876C>G
XR_001753686.2:n.2519C>G
NM_000527.5:c.2542C>G MANE Select NP_000518.1:p.Pro848Ala
NM_001195798.2:c.2542C>G NP_001182727.1:p.Pro848Ala
NM_001195799.2:c.2419C>G NP_001182728.1:p.Pro807Ala
NM_001195800.2:c.2038C>G NP_001182729.1:p.Pro680Ala
NM_001195803.2:c.2008C>G NP_001182732.1:p.Pro670Ala
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