Canonical Allele Identifier: CA032226

Gene: LDLR

Linked Data

• dbSNP Id: rs752951310
• ExAC: 19:11222274 G / C
• gnomAD v2: 19-11222274-G-C
• gnomAD v4: 19-11111598-G-C
• MyVariant Identifiers: chr19:g.11222274G>C (hg19) ; chr19:g.11111598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111598G>C , CM000681.2:g.11111598G>C	GRCh38
NC_000019.9:g.11222274G>C , CM000681.1:g.11222274G>C	GRCh37
NC_000019.8:g.11083274G>C	NCBI36
NG_009060.1:g.27218G>C , LRG_274:g.27218G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1403G>C	ENSP00000252444.6:p.Gly468Ala
ENST00000559340.2:c.1145G>C	ENSP00000453696.2:p.Gly382Ala
ENST00000560467.2:c.1025G>C	ENSP00000453513.2:p.Gly342Ala
ENST00000558518.6:c.1145G>C MANE Select	ENSP00000454071.1:p.Gly382Ala
ENST00000252444.9:c.1399G>C
ENST00000455727.6:c.641G>C	ENSP00000397829.2:p.Gly214Ala
ENST00000535915.5:c.1022G>C	ENSP00000440520.1:p.Gly341Ala
ENST00000545707.5:c.764G>C	ENSP00000437639.1:p.Gly255Ala
ENST00000557933.5:c.1145G>C	ENSP00000453557.1:p.Gly382Ala
ENST00000558013.5:c.1145G>C	ENSP00000453346.1:p.Gly382Ala
ENST00000558518.5:c.1145G>C	ENSP00000454071.1:p.Gly382Ala
ENST00000560173.1:n.144G>C
ENST00000560467.1:c.625G>C
NM_000527.4:c.1145G>C , LRG_274t1:c.1145G>C	NP_000518.1:p.Gly382Ala
NM_001195798.1:c.1145G>C	NP_001182727.1:p.Gly382Ala
NM_001195799.1:c.1022G>C	NP_001182728.1:p.Gly341Ala
NM_001195800.1:c.641G>C	NP_001182729.1:p.Gly214Ala
NM_001195803.1:c.764G>C	NP_001182732.1:p.Gly255Ala
XM_011528010.1:c.1145G>C	XP_011526312.1:p.Gly382Ala
XM_011528011.1:c.764G>C	XP_011526313.1:p.Gly255Ala
XR_244074.2:n.1295G>C
XM_011528010.2:c.1145G>C	XP_011526312.1:p.Gly382Ala
XR_001753685.2:n.1262G>C
XR_001753686.2:n.1262G>C
NM_000527.5:c.1145G>C MANE Select	NP_000518.1:p.Gly382Ala
NM_001195798.2:c.1145G>C	NP_001182727.1:p.Gly382Ala
NM_001195799.2:c.1022G>C	NP_001182728.1:p.Gly341Ala
NM_001195800.2:c.641G>C	NP_001182729.1:p.Gly214Ala
NM_001195803.2:c.764G>C	NP_001182732.1:p.Gly255Ala