Canonical Allele Identifier: CA038353

Gene: LDLR

Linked Data

• ClinVar Variation Id: 526762
• ClinVar RCV Id: RCV000631377 ; RCV001126804 ; RCV002420682
• dbSNP Id: rs149126953
• ExAC: 19:11231113 G / A
• gnomAD v2: 19-11231113-G-A
• gnomAD v3: 19-11120437-G-A
• gnomAD v4: 19-11120437-G-A
• MyVariant Identifiers: chr19:g.11231113G>A (hg19) ; chr19:g.11120437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120437G>A , CM000681.2:g.11120437G>A	GRCh38
NC_000019.9:g.11231113G>A , CM000681.1:g.11231113G>A	GRCh37
NC_000019.8:g.11092113G>A	NCBI36
NG_009060.1:g.36057G>A , LRG_274:g.36057G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2313G>A	ENSP00000252444.6:p.Pro771=
ENST00000559340.2:c.*124G>A	ENSP00000453696.2:n.*124G>A
ENST00000560467.2:c.1935G>A	ENSP00000453513.2:p.Pro645=
ENST00000558518.6:c.2055G>A MANE Select	ENSP00000454071.1:p.Pro685=
ENST00000252444.9:c.2309G>A
ENST00000455727.6:c.1551G>A	ENSP00000397829.2:p.Pro517=
ENST00000535915.5:c.1932G>A	ENSP00000440520.1:p.Pro644=
ENST00000545707.5:c.1606+204G>A	ENSP00000437639.1:n.1606+204G>A
ENST00000557933.5:c.2055G>A	ENSP00000453557.1:p.Pro685=
ENST00000558013.5:c.2055G>A	ENSP00000453346.1:p.Pro685=
ENST00000558518.5:c.2055G>A	ENSP00000454071.1:p.Pro685=
NM_000527.4:c.2055G>A , LRG_274t1:c.2055G>A	NP_000518.1:p.Pro685=
NM_001195798.1:c.2055G>A	NP_001182727.1:p.Pro685=
NM_001195799.1:c.1932G>A	NP_001182728.1:p.Pro644=
NM_001195800.1:c.1551G>A	NP_001182729.1:p.Pro517=
NM_001195803.1:c.1606+204G>A	NP_001182732.1:n.1606+204G>A
XM_011528010.1:c.2055G>A	XP_011526312.1:p.Pro685=
XM_011528011.1:c.1674G>A	XP_011526313.1:p.Pro558=
XR_244074.2:n.2065G>A
XM_011528010.2:c.2055G>A	XP_011526312.1:p.Pro685=
XR_001753685.2:n.2172G>A
XR_001753686.2:n.2032G>A
NM_000527.5:c.2055G>A MANE Select	NP_000518.1:p.Pro685=
NM_001195798.2:c.2055G>A	NP_001182727.1:p.Pro685=
NM_001195799.2:c.1932G>A	NP_001182728.1:p.Pro644=
NM_001195800.2:c.1551G>A	NP_001182729.1:p.Pro517=
NM_001195803.2:c.1606+204G>A	NP_001182732.1:n.1606+204G>A