Canonical Allele Identifier: CA16602321
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375806
ClinVar RCV Id: RCV000417282
dbSNP Id: rs373869746
MyVariant Identifiers: chr19:g.11221354G>T (hg19) chr19:g.11110678G>T (hg38)
ERepo: CA16602321/MONDO:0007750/013
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110678G>T , CM000681.2:g.11110678G>T GRCh38
NC_000019.9:g.11221354G>T , CM000681.1:g.11221354G>T GRCh37
NC_000019.8:g.11082354G>T NCBI36
NG_009060.1:g.26298G>T , LRG_274:g.26298G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1225G>T ENSP00000252444.6:p.Gly409Cys
ENST00000559340.2:c.967G>T ENSP00000453696.2:p.Gly323Cys
ENST00000560467.2:c.941-836G>T ENSP00000453513.2:n.941-836G>T
ENST00000558518.6:c.967G>T MANE Select ENSP00000454071.1:p.Gly323Cys
ENST00000252444.9:c.1221G>T
ENST00000455727.6:c.463G>T ENSP00000397829.2:p.Gly155Cys
ENST00000535915.5:c.844G>T ENSP00000440520.1:p.Gly282Cys
ENST00000545707.5:c.586G>T ENSP00000437639.1:p.Gly196Cys
ENST00000557933.5:c.967G>T ENSP00000453557.1:p.Gly323Cys
ENST00000558013.5:c.967G>T ENSP00000453346.1:p.Gly323Cys
ENST00000558518.5:c.967G>T ENSP00000454071.1:p.Gly323Cys
ENST00000560467.1:c.541-836G>T
NM_000527.4:c.967G>T , LRG_274t1:c.967G>T NP_000518.1:p.Gly323Cys
NM_001195798.1:c.967G>T NP_001182727.1:p.Gly323Cys
NM_001195799.1:c.844G>T NP_001182728.1:p.Gly282Cys
NM_001195800.1:c.463G>T NP_001182729.1:p.Gly155Cys
NM_001195803.1:c.586G>T NP_001182732.1:p.Gly196Cys
XM_011528010.1:c.967G>T XP_011526312.1:p.Gly323Cys
XM_011528011.1:c.586G>T XP_011526313.1:p.Gly196Cys
XR_244074.2:n.1117G>T
XM_011528010.2:c.967G>T XP_011526312.1:p.Gly323Cys
XR_001753685.2:n.1084G>T
XR_001753686.2:n.1084G>T
NM_000527.5:c.967G>T MANE Select NP_000518.1:p.Gly323Cys
NM_001195798.2:c.967G>T NP_001182727.1:p.Gly323Cys
NM_001195799.2:c.844G>T NP_001182728.1:p.Gly282Cys
NM_001195800.2:c.463G>T NP_001182729.1:p.Gly155Cys
NM_001195803.2:c.586G>T NP_001182732.1:p.Gly196Cys
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