Canonical Allele Identifier: CA404083684
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1411884234
gnomAD v2: 19-11222268-A-G
MyVariant Identifiers: chr19:g.11222268A>G (hg19) chr19:g.11111592A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111592A>G , CM000681.2:g.11111592A>G GRCh38
NC_000019.9:g.11222268A>G , CM000681.1:g.11222268A>G GRCh37
NC_000019.8:g.11083268A>G NCBI36
NG_009060.1:g.27212A>G , LRG_274:g.27212A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1397A>G ENSP00000252444.6:p.Glu466Gly
ENST00000559340.2:c.1139A>G ENSP00000453696.2:p.Glu380Gly
ENST00000560467.2:c.1019A>G ENSP00000453513.2:p.Glu340Gly
ENST00000558518.6:c.1139A>G MANE Select ENSP00000454071.1:p.Glu380Gly
ENST00000252444.9:c.1393A>G
ENST00000455727.6:c.635A>G ENSP00000397829.2:p.Glu212Gly
ENST00000535915.5:c.1016A>G ENSP00000440520.1:p.Glu339Gly
ENST00000545707.5:c.758A>G ENSP00000437639.1:p.Glu253Gly
ENST00000557933.5:c.1139A>G ENSP00000453557.1:p.Glu380Gly
ENST00000558013.5:c.1139A>G ENSP00000453346.1:p.Glu380Gly
ENST00000558518.5:c.1139A>G ENSP00000454071.1:p.Glu380Gly
ENST00000560173.1:n.138A>G
ENST00000560467.1:c.619A>G
NM_000527.4:c.1139A>G , LRG_274t1:c.1139A>G NP_000518.1:p.Glu380Gly
NM_001195798.1:c.1139A>G NP_001182727.1:p.Glu380Gly
NM_001195799.1:c.1016A>G NP_001182728.1:p.Glu339Gly
NM_001195800.1:c.635A>G NP_001182729.1:p.Glu212Gly
NM_001195803.1:c.758A>G NP_001182732.1:p.Glu253Gly
XM_011528010.1:c.1139A>G XP_011526312.1:p.Glu380Gly
XM_011528011.1:c.758A>G XP_011526313.1:p.Glu253Gly
XR_244074.2:n.1289A>G
XM_011528010.2:c.1139A>G XP_011526312.1:p.Glu380Gly
XR_001753685.2:n.1256A>G
XR_001753686.2:n.1256A>G
NM_000527.5:c.1139A>G MANE Select NP_000518.1:p.Glu380Gly
NM_001195798.2:c.1139A>G NP_001182727.1:p.Glu380Gly
NM_001195799.2:c.1016A>G NP_001182728.1:p.Glu339Gly
NM_001195800.2:c.635A>G NP_001182729.1:p.Glu212Gly
NM_001195803.2:c.758A>G NP_001182732.1:p.Glu253Gly
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