Canonical Allele Identifier: CA404082689
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11221377T>G (hg19) chr19:g.11110701T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110701T>G , CM000681.2:g.11110701T>G GRCh38
NC_000019.9:g.11221377T>G , CM000681.1:g.11221377T>G GRCh37
NC_000019.8:g.11082377T>G NCBI36
NG_009060.1:g.26321T>G , LRG_274:g.26321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1248T>G ENSP00000252444.6:p.Asn416Lys
ENST00000559340.2:c.990T>G ENSP00000453696.2:p.Asn330Lys
ENST00000560467.2:c.941-813T>G ENSP00000453513.2:n.941-813T>G
ENST00000558518.6:c.990T>G MANE Select ENSP00000454071.1:p.Asn330Lys
ENST00000252444.9:c.1244T>G
ENST00000455727.6:c.486T>G ENSP00000397829.2:p.Asn162Lys
ENST00000535915.5:c.867T>G ENSP00000440520.1:p.Asn289Lys
ENST00000545707.5:c.609T>G ENSP00000437639.1:p.Asn203Lys
ENST00000557933.5:c.990T>G ENSP00000453557.1:p.Asn330Lys
ENST00000558013.5:c.990T>G ENSP00000453346.1:p.Asn330Lys
ENST00000558518.5:c.990T>G ENSP00000454071.1:p.Asn330Lys
ENST00000560467.1:c.541-813T>G
NM_000527.4:c.990T>G , LRG_274t1:c.990T>G NP_000518.1:p.Asn330Lys
NM_001195798.1:c.990T>G NP_001182727.1:p.Asn330Lys
NM_001195799.1:c.867T>G NP_001182728.1:p.Asn289Lys
NM_001195800.1:c.486T>G NP_001182729.1:p.Asn162Lys
NM_001195803.1:c.609T>G NP_001182732.1:p.Asn203Lys
XM_011528010.1:c.990T>G XP_011526312.1:p.Asn330Lys
XM_011528011.1:c.609T>G XP_011526313.1:p.Asn203Lys
XR_244074.2:n.1140T>G
XM_011528010.2:c.990T>G XP_011526312.1:p.Asn330Lys
XR_001753685.2:n.1107T>G
XR_001753686.2:n.1107T>G
NM_000527.5:c.990T>G MANE Select NP_000518.1:p.Asn330Lys
NM_001195798.2:c.990T>G NP_001182727.1:p.Asn330Lys
NM_001195799.2:c.867T>G NP_001182728.1:p.Asn289Lys
NM_001195800.2:c.486T>G NP_001182729.1:p.Asn162Lys
NM_001195803.2:c.609T>G NP_001182732.1:p.Asn203Lys
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