Canonical Allele Identifier: CA404084655

Gene: LDLR

Linked Data

• ClinVar Variation Id: 923326
• ClinVar RCV Id: RCV001183909
• dbSNP Id: rs879254825
• gnomAD v4: 19-11113280-T-C
• MyVariant Identifiers: chr19:g.11223956T>C (hg19) ; chr19:g.11113280T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113280T>C , CM000681.2:g.11113280T>C	GRCh38
NC_000019.9:g.11223956T>C , CM000681.1:g.11223956T>C	GRCh37
NC_000019.8:g.11084956T>C	NCBI36
NG_009060.1:g.28900T>C , LRG_274:g.28900T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1447T>C	ENSP00000252444.6:p.Ser483Pro
ENST00000559340.2:c.1189T>C	ENSP00000453696.2:p.Ser397Pro
ENST00000560467.2:c.1069T>C	ENSP00000453513.2:p.Ser357Pro
ENST00000558518.6:c.1189T>C MANE Select	ENSP00000454071.1:p.Ser397Pro
ENST00000252444.9:c.1443T>C
ENST00000455727.6:c.685T>C	ENSP00000397829.2:p.Ser229Pro
ENST00000535915.5:c.1066T>C	ENSP00000440520.1:p.Ser356Pro
ENST00000545707.5:c.808T>C	ENSP00000437639.1:p.Ser270Pro
ENST00000557933.5:c.1189T>C	ENSP00000453557.1:p.Ser397Pro
ENST00000558013.5:c.1189T>C	ENSP00000453346.1:p.Ser397Pro
ENST00000558518.5:c.1189T>C	ENSP00000454071.1:p.Ser397Pro
ENST00000560173.1:n.188T>C
ENST00000560467.1:c.669T>C
NM_000527.4:c.1189T>C , LRG_274t1:c.1189T>C	NP_000518.1:p.Ser397Pro
NM_001195798.1:c.1189T>C	NP_001182727.1:p.Ser397Pro
NM_001195799.1:c.1066T>C	NP_001182728.1:p.Ser356Pro
NM_001195800.1:c.685T>C	NP_001182729.1:p.Ser229Pro
NM_001195803.1:c.808T>C	NP_001182732.1:p.Ser270Pro
XM_011528010.1:c.1189T>C	XP_011526312.1:p.Ser397Pro
XM_011528011.1:c.808T>C	XP_011526313.1:p.Ser270Pro
XR_244074.2:n.1339T>C
XM_011528010.2:c.1189T>C	XP_011526312.1:p.Ser397Pro
XR_001753685.2:n.1306T>C
XR_001753686.2:n.1306T>C
NM_000527.5:c.1189T>C MANE Select	NP_000518.1:p.Ser397Pro
NM_001195798.2:c.1189T>C	NP_001182727.1:p.Ser397Pro
NM_001195799.2:c.1066T>C	NP_001182728.1:p.Ser356Pro
NM_001195800.2:c.685T>C	NP_001182729.1:p.Ser229Pro
NM_001195803.2:c.808T>C	NP_001182732.1:p.Ser270Pro