Canonical Allele Identifier: CA404099720
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11129644-A-G
MyVariant Identifiers: chr19:g.11240320A>G (hg19) chr19:g.11129644A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129644A>G , CM000681.2:g.11129644A>G GRCh38
NC_000019.9:g.11240320A>G , CM000681.1:g.11240320A>G GRCh37
NC_000019.8:g.11101320A>G NCBI36
NG_009060.1:g.45264A>G , LRG_274:g.45264A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2779A>G ENSP00000252444.6:p.Asn927Asp
ENST00000559340.2:c.*590A>G ENSP00000453696.2:n.*590A>G
ENST00000560467.2:c.2401A>G ENSP00000453513.2:p.Asn801Asp
ENST00000558518.6:c.2521A>G MANE Select ENSP00000454071.1:p.Asn841Asp
ENST00000252444.9:c.2775A>G
ENST00000455727.6:c.2017A>G ENSP00000397829.2:p.Asn673Asp
ENST00000535915.5:c.2398A>G ENSP00000440520.1:p.Asn800Asp
ENST00000545707.5:c.1987A>G ENSP00000437639.1:p.Asn663Asp
ENST00000557933.5:c.2583A>G ENSP00000453557.1:p.Thr861=
ENST00000558013.5:c.2521A>G ENSP00000453346.1:p.Asn841Asp
ENST00000558518.5:c.2521A>G ENSP00000454071.1:p.Asn841Asp
ENST00000560628.1:n.108+1990A>G
NM_000527.4:c.2521A>G , LRG_274t1:c.2521A>G NP_000518.1:p.Asn841Asp
NM_001195798.1:c.2521A>G NP_001182727.1:p.Asn841Asp
NM_001195799.1:c.2398A>G NP_001182728.1:p.Asn800Asp
NM_001195800.1:c.2017A>G NP_001182729.1:p.Asn673Asp
NM_001195803.1:c.1987A>G NP_001182732.1:p.Asn663Asp
XM_011528010.1:c.2443A>G XP_011526312.1:p.Asn815Asp
XM_011528011.1:c.2140A>G XP_011526313.1:p.Asn714Asp
XM_011528010.2:c.2443A>G XP_011526312.1:p.Asn815Asp
XR_001753685.2:n.2855A>G
XR_001753686.2:n.2498A>G
NM_000527.5:c.2521A>G MANE Select NP_000518.1:p.Asn841Asp
NM_001195798.2:c.2521A>G NP_001182727.1:p.Asn841Asp
NM_001195799.2:c.2398A>G NP_001182728.1:p.Asn800Asp
NM_001195800.2:c.2017A>G NP_001182729.1:p.Asn673Asp
NM_001195803.2:c.1987A>G NP_001182732.1:p.Asn663Asp
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