Canonical Allele Identifier: CA404089857

Gene: LDLR

Linked Data

• ClinVar Variation Id: 852369
• ClinVar RCV Id: RCV001056960
• dbSNP Id: rs2077475503
• MyVariant Identifiers: chr19:g.11227657T>C (hg19) ; chr19:g.11116981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116981T>C , CM000681.2:g.11116981T>C	GRCh38
NC_000019.9:g.11227657T>C , CM000681.1:g.11227657T>C	GRCh37
NC_000019.8:g.11088657T>C	NCBI36
NG_009060.1:g.32601T>C , LRG_274:g.32601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2086T>C	ENSP00000252444.6:p.Ser696Pro
ENST00000559340.2:c.1705+769T>C	ENSP00000453696.2:n.1705+769T>C
ENST00000560467.2:c.1708T>C	ENSP00000453513.2:p.Ser570Pro
ENST00000558518.6:c.1828T>C MANE Select	ENSP00000454071.1:p.Ser610Pro
ENST00000252444.9:c.2082T>C
ENST00000455727.6:c.1324T>C	ENSP00000397829.2:p.Ser442Pro
ENST00000535915.5:c.1705T>C	ENSP00000440520.1:p.Ser569Pro
ENST00000545707.5:c.1447T>C	ENSP00000437639.1:p.Ser483Pro
ENST00000557933.5:c.1828T>C	ENSP00000453557.1:p.Ser610Pro
ENST00000558013.5:c.1828T>C	ENSP00000453346.1:p.Ser610Pro
ENST00000558518.5:c.1828T>C	ENSP00000454071.1:p.Ser610Pro
ENST00000559340.1:c.426+769T>C
NM_000527.4:c.1828T>C , LRG_274t1:c.1828T>C	NP_000518.1:p.Ser610Pro
NM_001195798.1:c.1828T>C	NP_001182727.1:p.Ser610Pro
NM_001195799.1:c.1705T>C	NP_001182728.1:p.Ser569Pro
NM_001195800.1:c.1324T>C	NP_001182729.1:p.Ser442Pro
NM_001195803.1:c.1447T>C	NP_001182732.1:p.Ser483Pro
XM_011528010.1:c.1828T>C	XP_011526312.1:p.Ser610Pro
XM_011528011.1:c.1447T>C	XP_011526313.1:p.Ser483Pro
XR_244074.2:n.1855+769T>C
XM_011528010.2:c.1828T>C	XP_011526312.1:p.Ser610Pro
XR_001753685.2:n.1945T>C
XR_001753686.2:n.1822+769T>C
NM_000527.5:c.1828T>C MANE Select	NP_000518.1:p.Ser610Pro
NM_001195798.2:c.1828T>C	NP_001182727.1:p.Ser610Pro
NM_001195799.2:c.1705T>C	NP_001182728.1:p.Ser569Pro
NM_001195800.2:c.1324T>C	NP_001182729.1:p.Ser442Pro
NM_001195803.2:c.1447T>C	NP_001182732.1:p.Ser483Pro