Canonical Allele Identifier: CA505486534

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2069202
• ClinVar RCV Id: RCV002961976
• dbSNP Id: rs1299911628
• gnomAD v2: 19-11231119-C-T
• gnomAD v4: 19-11120443-C-T
• MyVariant Identifiers: chr19:g.11231119C>T (hg19) ; chr19:g.11120443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120443C>T , CM000681.2:g.11120443C>T	GRCh38
NC_000019.9:g.11231119C>T , CM000681.1:g.11231119C>T	GRCh37
NC_000019.8:g.11092119C>T	NCBI36
NG_009060.1:g.36063C>T , LRG_274:g.36063C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2319C>T	ENSP00000252444.6:p.Ile773=
ENST00000559340.2:c.*130C>T	ENSP00000453696.2:n.*130C>T
ENST00000560467.2:c.1941C>T	ENSP00000453513.2:p.Ile647=
ENST00000558518.6:c.2061C>T MANE Select	ENSP00000454071.1:p.Ile687=
ENST00000252444.9:c.2315C>T
ENST00000455727.6:c.1557C>T	ENSP00000397829.2:p.Ile519=
ENST00000535915.5:c.1938C>T	ENSP00000440520.1:p.Ile646=
ENST00000545707.5:c.1606+210C>T	ENSP00000437639.1:n.1606+210C>T
ENST00000557933.5:c.2061C>T	ENSP00000453557.1:p.Ile687=
ENST00000558013.5:c.2061C>T	ENSP00000453346.1:p.Ile687=
ENST00000558518.5:c.2061C>T	ENSP00000454071.1:p.Ile687=
NM_000527.4:c.2061C>T , LRG_274t1:c.2061C>T	NP_000518.1:p.Ile687=
NM_001195798.1:c.2061C>T	NP_001182727.1:p.Ile687=
NM_001195799.1:c.1938C>T	NP_001182728.1:p.Ile646=
NM_001195800.1:c.1557C>T	NP_001182729.1:p.Ile519=
NM_001195803.1:c.1606+210C>T	NP_001182732.1:n.1606+210C>T
XM_011528010.1:c.2061C>T	XP_011526312.1:p.Ile687=
XM_011528011.1:c.1680C>T	XP_011526313.1:p.Ile560=
XR_244074.2:n.2071C>T
XM_011528010.2:c.2061C>T	XP_011526312.1:p.Ile687=
XR_001753685.2:n.2178C>T
XR_001753686.2:n.2038C>T
NM_000527.5:c.2061C>T MANE Select	NP_000518.1:p.Ile687=
NM_001195798.2:c.2061C>T	NP_001182727.1:p.Ile687=
NM_001195799.2:c.1938C>T	NP_001182728.1:p.Ile646=
NM_001195800.2:c.1557C>T	NP_001182729.1:p.Ile519=
NM_001195803.2:c.1606+210C>T	NP_001182732.1:n.1606+210C>T