Canonical Allele Identifier: CA038402

Gene: LDLR

Linked Data

• ClinVar Variation Id: 526757
• ClinVar RCV Id: RCV002420681 ; RCV003478353
• dbSNP Id: rs142279332
• ExAC: 19:11231122 C / T
• gnomAD v2: 19-11231122-C-T
• gnomAD v3: 19-11120446-C-T
• gnomAD v4: 19-11120446-C-T
• MyVariant Identifiers: chr19:g.11231122C>T (hg19) ; chr19:g.11120446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120446C>T , CM000681.2:g.11120446C>T	GRCh38
NC_000019.9:g.11231122C>T , CM000681.1:g.11231122C>T	GRCh37
NC_000019.8:g.11092122C>T	NCBI36
NG_009060.1:g.36066C>T , LRG_274:g.36066C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2322C>T	ENSP00000252444.6:p.Asn774=
ENST00000559340.2:c.*133C>T	ENSP00000453696.2:n.*133C>T
ENST00000560467.2:c.1944C>T	ENSP00000453513.2:p.Asn648=
ENST00000558518.6:c.2064C>T MANE Select	ENSP00000454071.1:p.Asn688=
ENST00000252444.9:c.2318C>T
ENST00000455727.6:c.1560C>T	ENSP00000397829.2:p.Asn520=
ENST00000535915.5:c.1941C>T	ENSP00000440520.1:p.Asn647=
ENST00000545707.5:c.1606+213C>T	ENSP00000437639.1:n.1606+213C>T
ENST00000557933.5:c.2064C>T	ENSP00000453557.1:p.Asn688=
ENST00000558013.5:c.2064C>T	ENSP00000453346.1:p.Asn688=
ENST00000558518.5:c.2064C>T	ENSP00000454071.1:p.Asn688=
NM_000527.4:c.2064C>T , LRG_274t1:c.2064C>T	NP_000518.1:p.Asn688=
NM_001195798.1:c.2064C>T	NP_001182727.1:p.Asn688=
NM_001195799.1:c.1941C>T	NP_001182728.1:p.Asn647=
NM_001195800.1:c.1560C>T	NP_001182729.1:p.Asn520=
NM_001195803.1:c.1606+213C>T	NP_001182732.1:n.1606+213C>T
XM_011528010.1:c.2064C>T	XP_011526312.1:p.Asn688=
XM_011528011.1:c.1683C>T	XP_011526313.1:p.Asn561=
XR_244074.2:n.2074C>T
XM_011528010.2:c.2064C>T	XP_011526312.1:p.Asn688=
XR_001753685.2:n.2181C>T
XR_001753686.2:n.2041C>T
NM_000527.5:c.2064C>T MANE Select	NP_000518.1:p.Asn688=
NM_001195798.2:c.2064C>T	NP_001182727.1:p.Asn688=
NM_001195799.2:c.1941C>T	NP_001182728.1:p.Asn647=
NM_001195800.2:c.1560C>T	NP_001182729.1:p.Asn520=
NM_001195803.2:c.1606+213C>T	NP_001182732.1:n.1606+213C>T