Canonical Allele Identifier: CA023637
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36459
dbSNP Id: rs193922570

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120495G>C , CM000681.2:g.11120495G>C GRCh38
NC_000019.9:g.11231171G>C , CM000681.1:g.11231171G>C GRCh37
NC_000019.8:g.11092171G>C NCBI36
NG_009060.1:g.36115G>C , LRG_274:g.36115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2371G>C ENSP00000252444.6:p.Ala791Pro
ENST00000559340.2:c.*182G>C ENSP00000453696.2:n.*182G>C
ENST00000560467.2:c.1993G>C ENSP00000453513.2:p.Ala665Pro
ENST00000558518.6:c.2113G>C MANE Select ENSP00000454071.1:p.Ala705Pro
ENST00000252444.9:c.2367G>C
ENST00000455727.6:c.1609G>C ENSP00000397829.2:p.Ala537Pro
ENST00000535915.5:c.1990G>C ENSP00000440520.1:p.Ala664Pro
ENST00000545707.5:c.1606+262G>C ENSP00000437639.1:n.1606+262G>C
ENST00000557933.5:c.2113G>C ENSP00000453557.1:p.Ala705Pro
ENST00000558013.5:c.2113G>C ENSP00000453346.1:p.Ala705Pro
ENST00000558518.5:c.2113G>C ENSP00000454071.1:p.Ala705Pro
NM_000527.4:c.2113G>C , LRG_274t1:c.2113G>C NP_000518.1:p.Ala705Pro
NM_001195798.1:c.2113G>C NP_001182727.1:p.Ala705Pro
NM_001195799.1:c.1990G>C NP_001182728.1:p.Ala664Pro
NM_001195800.1:c.1609G>C NP_001182729.1:p.Ala537Pro
NM_001195803.1:c.1606+262G>C NP_001182732.1:n.1606+262G>C
XM_011528010.1:c.2113G>C XP_011526312.1:p.Ala705Pro
XM_011528011.1:c.1732G>C XP_011526313.1:p.Ala578Pro
XR_244074.2:n.2123G>C
XM_011528010.2:c.2113G>C XP_011526312.1:p.Ala705Pro
XR_001753685.2:n.2230G>C
XR_001753686.2:n.2090G>C
NM_000527.5:c.2113G>C MANE Select NP_000518.1:p.Ala705Pro
NM_001195798.2:c.2113G>C NP_001182727.1:p.Ala705Pro
NM_001195799.2:c.1990G>C NP_001182728.1:p.Ala664Pro
NM_001195800.2:c.1609G>C NP_001182729.1:p.Ala537Pro
NM_001195803.2:c.1606+262G>C NP_001182732.1:n.1606+262G>C