Canonical Allele Identifier: CA404082780
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077363715

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110745A>C , CM000681.2:g.11110745A>C GRCh38
NC_000019.9:g.11221421A>C , CM000681.1:g.11221421A>C GRCh37
NC_000019.8:g.11082421A>C NCBI36
NG_009060.1:g.26365A>C , LRG_274:g.26365A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1292A>C ENSP00000252444.6:p.Gln431Pro
ENST00000559340.2:c.1034A>C ENSP00000453696.2:p.Gln345Pro
ENST00000560467.2:c.941-769A>C ENSP00000453513.2:n.941-769A>C
ENST00000558518.6:c.1034A>C MANE Select ENSP00000454071.1:p.Gln345Pro
ENST00000252444.9:c.1288A>C
ENST00000455727.6:c.530A>C ENSP00000397829.2:p.Gln177Pro
ENST00000535915.5:c.911A>C ENSP00000440520.1:p.Gln304Pro
ENST00000545707.5:c.653A>C ENSP00000437639.1:p.Gln218Pro
ENST00000557933.5:c.1034A>C ENSP00000453557.1:p.Gln345Pro
ENST00000558013.5:c.1034A>C ENSP00000453346.1:p.Gln345Pro
ENST00000558518.5:c.1034A>C ENSP00000454071.1:p.Gln345Pro
ENST00000560173.1:n.33A>C
ENST00000560467.1:c.541-769A>C
NM_000527.4:c.1034A>C , LRG_274t1:c.1034A>C NP_000518.1:p.Gln345Pro
NM_001195798.1:c.1034A>C NP_001182727.1:p.Gln345Pro
NM_001195799.1:c.911A>C NP_001182728.1:p.Gln304Pro
NM_001195800.1:c.530A>C NP_001182729.1:p.Gln177Pro
NM_001195803.1:c.653A>C NP_001182732.1:p.Gln218Pro
XM_011528010.1:c.1034A>C XP_011526312.1:p.Gln345Pro
XM_011528011.1:c.653A>C XP_011526313.1:p.Gln218Pro
XR_244074.2:n.1184A>C
XM_011528010.2:c.1034A>C XP_011526312.1:p.Gln345Pro
XR_001753685.2:n.1151A>C
XR_001753686.2:n.1151A>C
NM_000527.5:c.1034A>C MANE Select NP_000518.1:p.Gln345Pro
NM_001195798.2:c.1034A>C NP_001182727.1:p.Gln345Pro
NM_001195799.2:c.911A>C NP_001182728.1:p.Gln304Pro
NM_001195800.2:c.530A>C NP_001182729.1:p.Gln177Pro
NM_001195803.2:c.653A>C NP_001182732.1:p.Gln218Pro