Canonical Allele Identifier: CA631762301

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1571968
• ClinVar RCV Id: RCV002205991
• dbSNP Id: rs1284807471
• gnomAD v2: 19-11210890-C-G
• gnomAD v3: 19-11100214-C-G
• gnomAD v4: 19-11100214-C-G
• MyVariant Identifiers: chr19:g.11210890C>G (hg19) ; chr19:g.11100214C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100214C>G , CM000681.2:g.11100214C>G	GRCh38
NC_000019.9:g.11210890C>G , CM000681.1:g.11210890C>G	GRCh37
NC_000019.8:g.11071890C>G	NCBI36
NG_009060.1:g.15834C>G , LRG_274:g.15834C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.326-9C>G	ENSP00000252444.6:n.326-9C>G
ENST00000559340.2:c.68-9C>G	ENSP00000453696.2:n.68-9C>G
ENST00000560467.2:c.68-9C>G	ENSP00000453513.2:n.68-9C>G
ENST00000558518.6:c.68-9C>G MANE Select	ENSP00000454071.1:n.68-9C>G
ENST00000252444.9:c.322-9C>G
ENST00000455727.6:c.68-9C>G	ENSP00000397829.2:n.68-9C>G
ENST00000535915.5:c.68-9C>G	ENSP00000440520.1:n.68-9C>G
ENST00000545707.5:c.68-9C>G	ENSP00000437639.1:n.68-9C>G
ENST00000557933.5:c.68-9C>G	ENSP00000453557.1:n.68-9C>G
ENST00000557958.1:n.154-9C>G
ENST00000558013.5:c.68-9C>G	ENSP00000453346.1:n.68-9C>G
ENST00000558518.5:c.68-9C>G	ENSP00000454071.1:n.68-9C>G
ENST00000560502.5:n.154-9C>G
NM_000527.4:c.68-9C>G , LRG_274t1:c.68-9C>G	NP_000518.1:n.68-9C>G
NM_001195798.1:c.68-9C>G	NP_001182727.1:n.68-9C>G
NM_001195799.1:c.68-9C>G	NP_001182728.1:n.68-9C>G
NM_001195800.1:c.68-9C>G	NP_001182729.1:n.68-9C>G
NM_001195803.1:c.68-9C>G	NP_001182732.1:n.68-9C>G
XM_011528010.1:c.68-9C>G	XP_011526312.1:n.68-9C>G
XM_011528011.1:c.68-9C>G	XP_011526313.1:n.68-9C>G
XR_244074.2:n.218-9C>G
XM_011528010.2:c.68-9C>G	XP_011526312.1:n.68-9C>G
XR_001753685.2:n.185-9C>G
XR_001753686.2:n.185-9C>G
NM_000527.5:c.68-9C>G MANE Select	NP_000518.1:n.68-9C>G
NM_001195798.2:c.68-9C>G	NP_001182727.1:n.68-9C>G
NM_001195799.2:c.68-9C>G	NP_001182728.1:n.68-9C>G
NM_001195800.2:c.68-9C>G	NP_001182729.1:n.68-9C>G
NM_001195803.2:c.68-9C>G	NP_001182732.1:n.68-9C>G