Canonical Allele Identifier: CA038722

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1914563
• ClinVar RCV Id: RCV002597652
• dbSNP Id: rs367641806
• ExAC: 19:11231185 G / A
• gnomAD v2: 19-11231185-G-A
• gnomAD v4: 19-11120509-G-A
• MyVariant Identifiers: chr19:g.11231185G>A (hg19) ; chr19:g.11120509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120509G>A , CM000681.2:g.11120509G>A	GRCh38
NC_000019.9:g.11231185G>A , CM000681.1:g.11231185G>A	GRCh37
NC_000019.8:g.11092185G>A	NCBI36
NG_009060.1:g.36129G>A , LRG_274:g.36129G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2385G>A	ENSP00000252444.6:p.Arg795=
ENST00000559340.2:c.*196G>A	ENSP00000453696.2:n.*196G>A
ENST00000560467.2:c.2007G>A	ENSP00000453513.2:p.Arg669=
ENST00000558518.6:c.2127G>A MANE Select	ENSP00000454071.1:p.Arg709=
ENST00000252444.9:c.2381G>A
ENST00000455727.6:c.1623G>A	ENSP00000397829.2:p.Arg541=
ENST00000535915.5:c.2004G>A	ENSP00000440520.1:p.Arg668=
ENST00000545707.5:c.1606+276G>A	ENSP00000437639.1:n.1606+276G>A
ENST00000557933.5:c.2127G>A	ENSP00000453557.1:p.Arg709=
ENST00000558013.5:c.2127G>A	ENSP00000453346.1:p.Arg709=
ENST00000558518.5:c.2127G>A	ENSP00000454071.1:p.Arg709=
NM_000527.4:c.2127G>A , LRG_274t1:c.2127G>A	NP_000518.1:p.Arg709=
NM_001195798.1:c.2127G>A	NP_001182727.1:p.Arg709=
NM_001195799.1:c.2004G>A	NP_001182728.1:p.Arg668=
NM_001195800.1:c.1623G>A	NP_001182729.1:p.Arg541=
NM_001195803.1:c.1606+276G>A	NP_001182732.1:n.1606+276G>A
XM_011528010.1:c.2127G>A	XP_011526312.1:p.Arg709=
XM_011528011.1:c.1746G>A	XP_011526313.1:p.Arg582=
XR_244074.2:n.2137G>A
XM_011528010.2:c.2127G>A	XP_011526312.1:p.Arg709=
XR_001753685.2:n.2244G>A
XR_001753686.2:n.2104G>A
NM_000527.5:c.2127G>A MANE Select	NP_000518.1:p.Arg709=
NM_001195798.2:c.2127G>A	NP_001182727.1:p.Arg709=
NM_001195799.2:c.2004G>A	NP_001182728.1:p.Arg668=
NM_001195800.2:c.1623G>A	NP_001182729.1:p.Arg541=
NM_001195803.2:c.1606+276G>A	NP_001182732.1:n.1606+276G>A