Canonical Allele Identifier: CA505743436
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 921139
ClinVar RCV Id: RCV001180386
dbSNP Id: rs2077525125
gnomAD v3: 19-11120175-T-C
gnomAD v4: 19-11120175-T-C
MyVariant Identifiers: chr19:g.11230851T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120175T>C , CM000681.2:g.11120175T>C GRCh38
NC_000019.9:g.11230851T>C , CM000681.1:g.11230851T>C GRCh37
NC_000019.8:g.11091851T>C NCBI36
NG_009060.1:g.35795T>C , LRG_274:g.35795T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2187T>C ENSP00000252444.6:p.Ala729=
ENST00000559340.2:c.1789T>C ENSP00000453696.2:p.Ter597Arg
ENST00000560467.2:c.1809T>C ENSP00000453513.2:p.Ala603=
ENST00000558518.6:c.1929T>C MANE Select ENSP00000454071.1:p.Ala643=
ENST00000252444.9:c.2183T>C
ENST00000455727.6:c.1425T>C ENSP00000397829.2:p.Ala475=
ENST00000535915.5:c.1806T>C ENSP00000440520.1:p.Ala602=
ENST00000545707.5:c.1548T>C ENSP00000437639.1:p.Ala516=
ENST00000557933.5:c.1929T>C ENSP00000453557.1:p.Ala643=
ENST00000558013.5:c.1929T>C ENSP00000453346.1:p.Ala643=
ENST00000558518.5:c.1929T>C ENSP00000454071.1:p.Ala643=
ENST00000559340.1:c.510T>C
NM_000527.4:c.1929T>C , LRG_274t1:c.1929T>C NP_000518.1:p.Ala643=
NM_001195798.1:c.1929T>C NP_001182727.1:p.Ala643=
NM_001195799.1:c.1806T>C NP_001182728.1:p.Ala602=
NM_001195800.1:c.1425T>C NP_001182729.1:p.Ala475=
NM_001195803.1:c.1548T>C NP_001182732.1:p.Ala516=
XM_011528010.1:c.1929T>C XP_011526312.1:p.Ala643=
XM_011528011.1:c.1548T>C XP_011526313.1:p.Ala516=
XR_244074.2:n.1939T>C
XM_011528010.2:c.1929T>C XP_011526312.1:p.Ala643=
XR_001753685.2:n.2046T>C
XR_001753686.2:n.1906T>C
NM_000527.5:c.1929T>C MANE Select NP_000518.1:p.Ala643=
NM_001195798.2:c.1929T>C NP_001182727.1:p.Ala643=
NM_001195799.2:c.1806T>C NP_001182728.1:p.Ala602=
NM_001195800.2:c.1425T>C NP_001182729.1:p.Ala475=
NM_001195803.2:c.1548T>C NP_001182732.1:p.Ala516=
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