Canonical Allele Identifier: CA404079117
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11105596-C-G
MyVariant Identifiers: chr19:g.11216272C>G (hg19) chr19:g.11105596C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105596C>G , CM000681.2:g.11105596C>G GRCh38
NC_000019.9:g.11216272C>G , CM000681.1:g.11216272C>G GRCh37
NC_000019.8:g.11077272C>G NCBI36
NG_009060.1:g.21216C>G , LRG_274:g.21216C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.948C>G ENSP00000252444.6:p.Asn316Lys
ENST00000559340.2:c.690C>G ENSP00000453696.2:p.Asn230Lys
ENST00000560467.2:c.690C>G ENSP00000453513.2:p.Asn230Lys
ENST00000558518.6:c.690C>G MANE Select ENSP00000454071.1:p.Asn230Lys
ENST00000252444.9:c.944C>G
ENST00000455727.6:c.314-1796C>G ENSP00000397829.2:n.314-1796C>G
ENST00000535915.5:c.567C>G ENSP00000440520.1:p.Asn189Lys
ENST00000545707.5:c.314-969C>G ENSP00000437639.1:n.314-969C>G
ENST00000557933.5:c.690C>G ENSP00000453557.1:p.Asn230Lys
ENST00000558013.5:c.690C>G ENSP00000453346.1:p.Asn230Lys
ENST00000558518.5:c.690C>G ENSP00000454071.1:p.Asn230Lys
ENST00000560467.1:c.290C>G
NM_000527.4:c.690C>G , LRG_274t1:c.690C>G NP_000518.1:p.Asn230Lys
NM_001195798.1:c.690C>G NP_001182727.1:p.Asn230Lys
NM_001195799.1:c.567C>G NP_001182728.1:p.Asn189Lys
NM_001195800.1:c.314-1796C>G NP_001182729.1:n.314-1796C>G
NM_001195803.1:c.314-969C>G NP_001182732.1:n.314-969C>G
XM_011528010.1:c.690C>G XP_011526312.1:p.Asn230Lys
XM_011528011.1:c.314-969C>G XP_011526313.1:n.314-969C>G
XR_244074.2:n.840C>G
XM_011528010.2:c.690C>G XP_011526312.1:p.Asn230Lys
XR_001753685.2:n.807C>G
XR_001753686.2:n.807C>G
NM_000527.5:c.690C>G MANE Select NP_000518.1:p.Asn230Lys
NM_001195798.2:c.690C>G NP_001182727.1:p.Asn230Lys
NM_001195799.2:c.567C>G NP_001182728.1:p.Asn189Lys
NM_001195800.2:c.314-1796C>G NP_001182729.1:n.314-1796C>G
NM_001195803.2:c.314-969C>G NP_001182732.1:n.314-969C>G
Search 100 bp 5'
Search 100 bp 3'