Canonical Allele Identifier: CA10576302

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226352
• ClinVar RCV Id: RCV000211629
• dbSNP Id: rs552422789
• gnomAD v4: 19-11113308-G-C
• MyVariant Identifiers: chr19:g.11223984G>C (hg19) ; chr19:g.11113308G>C (hg38)
• PubMed: PMID:16250003 ; PMID:17094996 ; PMID:22698793
• ERepo: CA10576302/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113308G>C , CM000681.2:g.11113308G>C	GRCh38
NC_000019.9:g.11223984G>C , CM000681.1:g.11223984G>C	GRCh37
NC_000019.8:g.11084984G>C	NCBI36
NG_009060.1:g.28928G>C , LRG_274:g.28928G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1475G>C	ENSP00000252444.6:p.Arg492Pro
ENST00000559340.2:c.1217G>C	ENSP00000453696.2:p.Arg406Pro
ENST00000560467.2:c.1097G>C	ENSP00000453513.2:p.Arg366Pro
ENST00000558518.6:c.1217G>C MANE Select	ENSP00000454071.1:p.Arg406Pro
ENST00000252444.9:c.1471G>C
ENST00000455727.6:c.713G>C	ENSP00000397829.2:p.Arg238Pro
ENST00000535915.5:c.1094G>C	ENSP00000440520.1:p.Arg365Pro
ENST00000545707.5:c.836G>C	ENSP00000437639.1:p.Arg279Pro
ENST00000557933.5:c.1217G>C	ENSP00000453557.1:p.Arg406Pro
ENST00000558013.5:c.1217G>C	ENSP00000453346.1:p.Arg406Pro
ENST00000558518.5:c.1217G>C	ENSP00000454071.1:p.Arg406Pro
ENST00000560173.1:n.216G>C
ENST00000560467.1:c.697G>C
NM_000527.4:c.1217G>C , LRG_274t1:c.1217G>C	NP_000518.1:p.Arg406Pro
NM_001195798.1:c.1217G>C	NP_001182727.1:p.Arg406Pro
NM_001195799.1:c.1094G>C	NP_001182728.1:p.Arg365Pro
NM_001195800.1:c.713G>C	NP_001182729.1:p.Arg238Pro
NM_001195803.1:c.836G>C	NP_001182732.1:p.Arg279Pro
XM_011528010.1:c.1217G>C	XP_011526312.1:p.Arg406Pro
XM_011528011.1:c.836G>C	XP_011526313.1:p.Arg279Pro
XR_244074.2:n.1367G>C
XM_011528010.2:c.1217G>C	XP_011526312.1:p.Arg406Pro
XR_001753685.2:n.1334G>C
XR_001753686.2:n.1334G>C
NM_000527.5:c.1217G>C MANE Select	NP_000518.1:p.Arg406Pro
NM_001195798.2:c.1217G>C	NP_001182727.1:p.Arg406Pro
NM_001195799.2:c.1094G>C	NP_001182728.1:p.Arg365Pro
NM_001195800.2:c.713G>C	NP_001182729.1:p.Arg238Pro
NM_001195803.2:c.836G>C	NP_001182732.1:p.Arg279Pro