Canonical Allele Identifier: CA505486252

Gene: LDLR

Linked Data

• ClinVar Variation Id: 920244
• ClinVar RCV Id: RCV001178907
• dbSNP Id: rs1472402792
• gnomAD v2: 19-11227624-T-C
• MyVariant Identifiers: chr19:g.11227624T>C (hg19) ; chr19:g.11116948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116948T>C , CM000681.2:g.11116948T>C	GRCh38
NC_000019.9:g.11227624T>C , CM000681.1:g.11227624T>C	GRCh37
NC_000019.8:g.11088624T>C	NCBI36
NG_009060.1:g.32568T>C , LRG_274:g.32568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2053T>C	ENSP00000252444.6:p.Leu685=
ENST00000559340.2:c.1705+736T>C	ENSP00000453696.2:n.1705+736T>C
ENST00000560467.2:c.1675T>C	ENSP00000453513.2:p.Leu559=
ENST00000558518.6:c.1795T>C MANE Select	ENSP00000454071.1:p.Leu599=
ENST00000252444.9:c.2049T>C
ENST00000455727.6:c.1291T>C	ENSP00000397829.2:p.Leu431=
ENST00000535915.5:c.1672T>C	ENSP00000440520.1:p.Leu558=
ENST00000545707.5:c.1414T>C	ENSP00000437639.1:p.Leu472=
ENST00000557933.5:c.1795T>C	ENSP00000453557.1:p.Leu599=
ENST00000558013.5:c.1795T>C	ENSP00000453346.1:p.Leu599=
ENST00000558518.5:c.1795T>C	ENSP00000454071.1:p.Leu599=
ENST00000559340.1:c.426+736T>C
NM_000527.4:c.1795T>C , LRG_274t1:c.1795T>C	NP_000518.1:p.Leu599=
NM_001195798.1:c.1795T>C	NP_001182727.1:p.Leu599=
NM_001195799.1:c.1672T>C	NP_001182728.1:p.Leu558=
NM_001195800.1:c.1291T>C	NP_001182729.1:p.Leu431=
NM_001195803.1:c.1414T>C	NP_001182732.1:p.Leu472=
XM_011528010.1:c.1795T>C	XP_011526312.1:p.Leu599=
XM_011528011.1:c.1414T>C	XP_011526313.1:p.Leu472=
XR_244074.2:n.1855+736T>C
XM_011528010.2:c.1795T>C	XP_011526312.1:p.Leu599=
XR_001753685.2:n.1912T>C
XR_001753686.2:n.1822+736T>C
NM_000527.5:c.1795T>C MANE Select	NP_000518.1:p.Leu599=
NM_001195798.2:c.1795T>C	NP_001182727.1:p.Leu599=
NM_001195799.2:c.1672T>C	NP_001182728.1:p.Leu558=
NM_001195800.2:c.1291T>C	NP_001182729.1:p.Leu431=
NM_001195803.2:c.1414T>C	NP_001182732.1:p.Leu472=