Canonical Allele Identifier: CA404092505
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230795A>C (hg19) chr19:g.11120119A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120119A>C , CM000681.2:g.11120119A>C GRCh38
NC_000019.9:g.11230795A>C , CM000681.1:g.11230795A>C GRCh37
NC_000019.8:g.11091795A>C NCBI36
NG_009060.1:g.35739A>C , LRG_274:g.35739A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2131A>C ENSP00000252444.6:p.Asn711His
ENST00000559340.2:c.1733A>C ENSP00000453696.2:p.Gln578Pro
ENST00000560467.2:c.1753A>C ENSP00000453513.2:p.Asn585His
ENST00000558518.6:c.1873A>C MANE Select ENSP00000454071.1:p.Asn625His
ENST00000252444.9:c.2127A>C
ENST00000455727.6:c.1369A>C ENSP00000397829.2:p.Asn457His
ENST00000535915.5:c.1750A>C ENSP00000440520.1:p.Asn584His
ENST00000545707.5:c.1492A>C ENSP00000437639.1:p.Asn498His
ENST00000557933.5:c.1873A>C ENSP00000453557.1:p.Asn625His
ENST00000558013.5:c.1873A>C ENSP00000453346.1:p.Asn625His
ENST00000558518.5:c.1873A>C ENSP00000454071.1:p.Asn625His
ENST00000559340.1:c.454A>C
NM_000527.4:c.1873A>C , LRG_274t1:c.1873A>C NP_000518.1:p.Asn625His
NM_001195798.1:c.1873A>C NP_001182727.1:p.Asn625His
NM_001195799.1:c.1750A>C NP_001182728.1:p.Asn584His
NM_001195800.1:c.1369A>C NP_001182729.1:p.Asn457His
NM_001195803.1:c.1492A>C NP_001182732.1:p.Asn498His
XM_011528010.1:c.1873A>C XP_011526312.1:p.Asn625His
XM_011528011.1:c.1492A>C XP_011526313.1:p.Asn498His
XR_244074.2:n.1883A>C
XM_011528010.2:c.1873A>C XP_011526312.1:p.Asn625His
XR_001753685.2:n.1990A>C
XR_001753686.2:n.1850A>C
NM_000527.5:c.1873A>C MANE Select NP_000518.1:p.Asn625His
NM_001195798.2:c.1873A>C NP_001182727.1:p.Asn625His
NM_001195799.2:c.1750A>C NP_001182728.1:p.Asn584His
NM_001195800.2:c.1369A>C NP_001182729.1:p.Asn457His
NM_001195803.2:c.1492A>C NP_001182732.1:p.Asn498His
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