Canonical Allele Identifier: CA404085917
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224274G>C (hg19) chr19:g.11113598G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113598G>C , CM000681.2:g.11113598G>C GRCh38
NC_000019.9:g.11224274G>C , CM000681.1:g.11224274G>C GRCh37
NC_000019.8:g.11085274G>C NCBI36
NG_009060.1:g.29218G>C , LRG_274:g.29218G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1680G>C ENSP00000252444.6:p.Gln560His
ENST00000559340.2:c.1422G>C ENSP00000453696.2:p.Gln474His
ENST00000560467.2:c.1302G>C ENSP00000453513.2:p.Gln434His
ENST00000558518.6:c.1422G>C MANE Select ENSP00000454071.1:p.Gln474His
ENST00000252444.9:c.1676G>C
ENST00000455727.6:c.918G>C ENSP00000397829.2:p.Gln306His
ENST00000535915.5:c.1299G>C ENSP00000440520.1:p.Gln433His
ENST00000545707.5:c.1041G>C ENSP00000437639.1:p.Gln347His
ENST00000557933.5:c.1422G>C ENSP00000453557.1:p.Gln474His
ENST00000558013.5:c.1422G>C ENSP00000453346.1:p.Gln474His
ENST00000558518.5:c.1422G>C ENSP00000454071.1:p.Gln474His
ENST00000559340.1:c.143G>C
ENST00000560467.1:c.902G>C
NM_000527.4:c.1422G>C , LRG_274t1:c.1422G>C NP_000518.1:p.Gln474His
NM_001195798.1:c.1422G>C NP_001182727.1:p.Gln474His
NM_001195799.1:c.1299G>C NP_001182728.1:p.Gln433His
NM_001195800.1:c.918G>C NP_001182729.1:p.Gln306His
NM_001195803.1:c.1041G>C NP_001182732.1:p.Gln347His
XM_011528010.1:c.1422G>C XP_011526312.1:p.Gln474His
XM_011528011.1:c.1041G>C XP_011526313.1:p.Gln347His
XR_244074.2:n.1572G>C
XM_011528010.2:c.1422G>C XP_011526312.1:p.Gln474His
XR_001753685.2:n.1539G>C
XR_001753686.2:n.1539G>C
NM_000527.5:c.1422G>C MANE Select NP_000518.1:p.Gln474His
NM_001195798.2:c.1422G>C NP_001182727.1:p.Gln474His
NM_001195799.2:c.1299G>C NP_001182728.1:p.Gln433His
NM_001195800.2:c.918G>C NP_001182729.1:p.Gln306His
NM_001195803.2:c.1041G>C NP_001182732.1:p.Gln347His
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