Canonical Allele Identifier: CA505743210

Gene: LDLR

Linked Data

• ClinVar Variation Id: 702432
• ClinVar RCV Id: RCV001179953
• dbSNP Id: rs1568603661
• gnomAD v4: 19-11113381-C-T
• COSMIC: COSM3528469
• MyVariant Identifiers: chr19:g.11224057C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113381C>T , CM000681.2:g.11113381C>T	GRCh38
NC_000019.9:g.11224057C>T , CM000681.1:g.11224057C>T	GRCh37
NC_000019.8:g.11085057C>T	NCBI36
NG_009060.1:g.29001C>T , LRG_274:g.29001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1548C>T	ENSP00000252444.6:p.Val516=
ENST00000559340.2:c.1290C>T	ENSP00000453696.2:p.Val430=
ENST00000560467.2:c.1170C>T	ENSP00000453513.2:p.Val390=
ENST00000558518.6:c.1290C>T MANE Select	ENSP00000454071.1:p.Val430=
ENST00000252444.9:c.1544C>T
ENST00000455727.6:c.786C>T	ENSP00000397829.2:p.Val262=
ENST00000535915.5:c.1167C>T	ENSP00000440520.1:p.Val389=
ENST00000545707.5:c.909C>T	ENSP00000437639.1:p.Val303=
ENST00000557933.5:c.1290C>T	ENSP00000453557.1:p.Val430=
ENST00000558013.5:c.1290C>T	ENSP00000453346.1:p.Val430=
ENST00000558518.5:c.1290C>T	ENSP00000454071.1:p.Val430=
ENST00000559340.1:c.11C>T
ENST00000560173.1:n.289C>T
ENST00000560467.1:c.770C>T
NM_000527.4:c.1290C>T , LRG_274t1:c.1290C>T	NP_000518.1:p.Val430=
NM_001195798.1:c.1290C>T	NP_001182727.1:p.Val430=
NM_001195799.1:c.1167C>T	NP_001182728.1:p.Val389=
NM_001195800.1:c.786C>T	NP_001182729.1:p.Val262=
NM_001195803.1:c.909C>T	NP_001182732.1:p.Val303=
XM_011528010.1:c.1290C>T	XP_011526312.1:p.Val430=
XM_011528011.1:c.909C>T	XP_011526313.1:p.Val303=
XR_244074.2:n.1440C>T
XM_011528010.2:c.1290C>T	XP_011526312.1:p.Val430=
XR_001753685.2:n.1407C>T
XR_001753686.2:n.1407C>T
NM_000527.5:c.1290C>T MANE Select	NP_000518.1:p.Val430=
NM_001195798.2:c.1290C>T	NP_001182727.1:p.Val430=
NM_001195799.2:c.1167C>T	NP_001182728.1:p.Val389=
NM_001195800.2:c.786C>T	NP_001182729.1:p.Val262=
NM_001195803.2:c.909C>T	NP_001182732.1:p.Val303=