Canonical Allele Identifier: CA404080277
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11217357G>T (hg19) chr19:g.11106681G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106681G>T , CM000681.2:g.11106681G>T GRCh38
NC_000019.9:g.11217357G>T , CM000681.1:g.11217357G>T GRCh37
NC_000019.8:g.11078357G>T NCBI36
NG_009060.1:g.22301G>T , LRG_274:g.22301G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1069G>T ENSP00000252444.6:p.Val357Phe
ENST00000559340.2:c.811G>T ENSP00000453696.2:p.Val271Phe
ENST00000560467.2:c.811G>T ENSP00000453513.2:p.Val271Phe
ENST00000558518.6:c.811G>T MANE Select ENSP00000454071.1:p.Val271Phe
ENST00000252444.9:c.1065G>T
ENST00000455727.6:c.314-711G>T ENSP00000397829.2:n.314-711G>T
ENST00000535915.5:c.688G>T ENSP00000440520.1:p.Val230Phe
ENST00000545707.5:c.430G>T ENSP00000437639.1:p.Val144Phe
ENST00000557933.5:c.811G>T ENSP00000453557.1:p.Val271Phe
ENST00000558013.5:c.811G>T ENSP00000453346.1:p.Val271Phe
ENST00000558518.5:c.811G>T ENSP00000454071.1:p.Val271Phe
ENST00000558528.1:n.326G>T
ENST00000560467.1:c.411G>T
NM_000527.4:c.811G>T , LRG_274t1:c.811G>T NP_000518.1:p.Val271Phe
NM_001195798.1:c.811G>T NP_001182727.1:p.Val271Phe
NM_001195799.1:c.688G>T NP_001182728.1:p.Val230Phe
NM_001195800.1:c.314-711G>T NP_001182729.1:n.314-711G>T
NM_001195803.1:c.430G>T NP_001182732.1:p.Val144Phe
XM_011528010.1:c.811G>T XP_011526312.1:p.Val271Phe
XM_011528011.1:c.430G>T XP_011526313.1:p.Val144Phe
XR_244074.2:n.961G>T
XM_011528010.2:c.811G>T XP_011526312.1:p.Val271Phe
XR_001753685.2:n.928G>T
XR_001753686.2:n.928G>T
NM_000527.5:c.811G>T MANE Select NP_000518.1:p.Val271Phe
NM_001195798.2:c.811G>T NP_001182727.1:p.Val271Phe
NM_001195799.2:c.688G>T NP_001182728.1:p.Val230Phe
NM_001195800.2:c.314-711G>T NP_001182729.1:n.314-711G>T
NM_001195803.2:c.430G>T NP_001182732.1:p.Val144Phe
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