Canonical Allele Identifier: CA505743394
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11120136-T-C
MyVariant Identifiers: chr19:g.11230812T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120136T>C , CM000681.2:g.11120136T>C GRCh38
NC_000019.9:g.11230812T>C , CM000681.1:g.11230812T>C GRCh37
NC_000019.8:g.11091812T>C NCBI36
NG_009060.1:g.35756T>C , LRG_274:g.35756T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2148T>C ENSP00000252444.6:p.Ser716=
ENST00000559340.2:c.1750T>C ENSP00000453696.2:p.Cys584Arg
ENST00000560467.2:c.1770T>C ENSP00000453513.2:p.Ser590=
ENST00000558518.6:c.1890T>C MANE Select ENSP00000454071.1:p.Ser630=
ENST00000252444.9:c.2144T>C
ENST00000455727.6:c.1386T>C ENSP00000397829.2:p.Ser462=
ENST00000535915.5:c.1767T>C ENSP00000440520.1:p.Ser589=
ENST00000545707.5:c.1509T>C ENSP00000437639.1:p.Ser503=
ENST00000557933.5:c.1890T>C ENSP00000453557.1:p.Ser630=
ENST00000558013.5:c.1890T>C ENSP00000453346.1:p.Ser630=
ENST00000558518.5:c.1890T>C ENSP00000454071.1:p.Ser630=
ENST00000559340.1:c.471T>C
NM_000527.4:c.1890T>C , LRG_274t1:c.1890T>C NP_000518.1:p.Ser630=
NM_001195798.1:c.1890T>C NP_001182727.1:p.Ser630=
NM_001195799.1:c.1767T>C NP_001182728.1:p.Ser589=
NM_001195800.1:c.1386T>C NP_001182729.1:p.Ser462=
NM_001195803.1:c.1509T>C NP_001182732.1:p.Ser503=
XM_011528010.1:c.1890T>C XP_011526312.1:p.Ser630=
XM_011528011.1:c.1509T>C XP_011526313.1:p.Ser503=
XR_244074.2:n.1900T>C
XM_011528010.2:c.1890T>C XP_011526312.1:p.Ser630=
XR_001753685.2:n.2007T>C
XR_001753686.2:n.1867T>C
NM_000527.5:c.1890T>C MANE Select NP_000518.1:p.Ser630=
NM_001195798.2:c.1890T>C NP_001182727.1:p.Ser630=
NM_001195799.2:c.1767T>C NP_001182728.1:p.Ser589=
NM_001195800.2:c.1386T>C NP_001182729.1:p.Ser462=
NM_001195803.2:c.1509T>C NP_001182732.1:p.Ser503=
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