Canonical Allele Identifier: CA404099182
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240273A>G (hg19) chr19:g.11129597A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129597A>G , CM000681.2:g.11129597A>G GRCh38
NC_000019.9:g.11240273A>G , CM000681.1:g.11240273A>G GRCh37
NC_000019.8:g.11101273A>G NCBI36
NG_009060.1:g.45217A>G , LRG_274:g.45217A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2732A>G ENSP00000252444.6:p.Asn911Ser
ENST00000559340.2:c.*543A>G ENSP00000453696.2:n.*543A>G
ENST00000560467.2:c.2354A>G ENSP00000453513.2:p.Asn785Ser
ENST00000558518.6:c.2474A>G MANE Select ENSP00000454071.1:p.Asn825Ser
ENST00000252444.9:c.2728A>G
ENST00000455727.6:c.1970A>G ENSP00000397829.2:p.Asn657Ser
ENST00000535915.5:c.2351A>G ENSP00000440520.1:p.Asn784Ser
ENST00000545707.5:c.1940A>G ENSP00000437639.1:p.Asn647Ser
ENST00000557933.5:c.2536A>G ENSP00000453557.1:p.Thr846Ala
ENST00000558013.5:c.2474A>G ENSP00000453346.1:p.Asn825Ser
ENST00000558518.5:c.2474A>G ENSP00000454071.1:p.Asn825Ser
ENST00000560628.1:n.108+1943A>G
NM_000527.4:c.2474A>G , LRG_274t1:c.2474A>G NP_000518.1:p.Asn825Ser
NM_001195798.1:c.2474A>G NP_001182727.1:p.Asn825Ser
NM_001195799.1:c.2351A>G NP_001182728.1:p.Asn784Ser
NM_001195800.1:c.1970A>G NP_001182729.1:p.Asn657Ser
NM_001195803.1:c.1940A>G NP_001182732.1:p.Asn647Ser
XM_011528010.1:c.2396A>G XP_011526312.1:p.Asn799Ser
XM_011528011.1:c.2093A>G XP_011526313.1:p.Asn698Ser
XM_011528010.2:c.2396A>G XP_011526312.1:p.Asn799Ser
XR_001753685.2:n.2808A>G
XR_001753686.2:n.2451A>G
NM_000527.5:c.2474A>G MANE Select NP_000518.1:p.Asn825Ser
NM_001195798.2:c.2474A>G NP_001182727.1:p.Asn825Ser
NM_001195799.2:c.2351A>G NP_001182728.1:p.Asn784Ser
NM_001195800.2:c.1970A>G NP_001182729.1:p.Asn657Ser
NM_001195803.2:c.1940A>G NP_001182732.1:p.Asn647Ser
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