Canonical Allele Identifier: CA993518481

Gene: LDLR

Linked Data

• dbSNP Id: rs2077470361
• gnomAD v3: 19-11116835-C-T
• gnomAD v4: 19-11116835-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116835C>T , CM000681.2:g.11116835C>T	GRCh38
NC_000019.9:g.11227511C>T , CM000681.1:g.11227511C>T	GRCh37
NC_000019.8:g.11088511C>T	NCBI36
NG_009060.1:g.32455C>T , LRG_274:g.32455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1964-24C>T	ENSP00000252444.6:n.1964-24C>T
ENST00000559340.2:c.1705+623C>T	ENSP00000453696.2:n.1705+623C>T
ENST00000560467.2:c.1586-24C>T	ENSP00000453513.2:n.1586-24C>T
ENST00000558518.6:c.1706-24C>T MANE Select	ENSP00000454071.1:n.1706-24C>T
ENST00000252444.9:c.1960-24C>T
ENST00000455727.6:c.1202-24C>T	ENSP00000397829.2:n.1202-24C>T
ENST00000535915.5:c.1583-24C>T	ENSP00000440520.1:n.1583-24C>T
ENST00000545707.5:c.1325-24C>T	ENSP00000437639.1:n.1325-24C>T
ENST00000557933.5:c.1706-24C>T	ENSP00000453557.1:n.1706-24C>T
ENST00000558013.5:c.1706-24C>T	ENSP00000453346.1:n.1706-24C>T
ENST00000558518.5:c.1706-24C>T	ENSP00000454071.1:n.1706-24C>T
ENST00000559340.1:c.426+623C>T
NM_000527.4:c.1706-24C>T , LRG_274t1:c.1706-24C>T	NP_000518.1:n.1706-24C>T
NM_001195798.1:c.1706-24C>T	NP_001182727.1:n.1706-24C>T
NM_001195799.1:c.1583-24C>T	NP_001182728.1:n.1583-24C>T
NM_001195800.1:c.1202-24C>T	NP_001182729.1:n.1202-24C>T
NM_001195803.1:c.1325-24C>T	NP_001182732.1:n.1325-24C>T
XM_011528010.1:c.1706-24C>T	XP_011526312.1:n.1706-24C>T
XM_011528011.1:c.1325-24C>T	XP_011526313.1:n.1325-24C>T
XR_244074.2:n.1855+623C>T
XM_011528010.2:c.1706-24C>T	XP_011526312.1:n.1706-24C>T
XR_001753685.2:n.1823-24C>T
XR_001753686.2:n.1822+623C>T
NM_000527.5:c.1706-24C>T MANE Select	NP_000518.1:n.1706-24C>T
NM_001195798.2:c.1706-24C>T	NP_001182727.1:n.1706-24C>T
NM_001195799.2:c.1583-24C>T	NP_001182728.1:n.1583-24C>T
NM_001195800.2:c.1202-24C>T	NP_001182729.1:n.1202-24C>T
NM_001195803.2:c.1325-24C>T	NP_001182732.1:n.1325-24C>T