Canonical Allele Identifier: CA404093868

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1497238
• ClinVar RCV Id: RCV002019776
• dbSNP Id: rs879255134
• MyVariant Identifiers: chr19:g.11231145G>T (hg19) ; chr19:g.11120469G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120469G>T , CM000681.2:g.11120469G>T	GRCh38
NC_000019.9:g.11231145G>T , CM000681.1:g.11231145G>T	GRCh37
NC_000019.8:g.11092145G>T	NCBI36
NG_009060.1:g.36089G>T , LRG_274:g.36089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2345G>T	ENSP00000252444.6:p.Cys782Phe
ENST00000559340.2:c.*156G>T	ENSP00000453696.2:n.*156G>T
ENST00000560467.2:c.1967G>T	ENSP00000453513.2:p.Cys656Phe
ENST00000558518.6:c.2087G>T MANE Select	ENSP00000454071.1:p.Cys696Phe
ENST00000252444.9:c.2341G>T
ENST00000455727.6:c.1583G>T	ENSP00000397829.2:p.Cys528Phe
ENST00000535915.5:c.1964G>T	ENSP00000440520.1:p.Cys655Phe
ENST00000545707.5:c.1606+236G>T	ENSP00000437639.1:n.1606+236G>T
ENST00000557933.5:c.2087G>T	ENSP00000453557.1:p.Cys696Phe
ENST00000558013.5:c.2087G>T	ENSP00000453346.1:p.Cys696Phe
ENST00000558518.5:c.2087G>T	ENSP00000454071.1:p.Cys696Phe
NM_000527.4:c.2087G>T , LRG_274t1:c.2087G>T	NP_000518.1:p.Cys696Phe
NM_001195798.1:c.2087G>T	NP_001182727.1:p.Cys696Phe
NM_001195799.1:c.1964G>T	NP_001182728.1:p.Cys655Phe
NM_001195800.1:c.1583G>T	NP_001182729.1:p.Cys528Phe
NM_001195803.1:c.1606+236G>T	NP_001182732.1:n.1606+236G>T
XM_011528010.1:c.2087G>T	XP_011526312.1:p.Cys696Phe
XM_011528011.1:c.1706G>T	XP_011526313.1:p.Cys569Phe
XR_244074.2:n.2097G>T
XM_011528010.2:c.2087G>T	XP_011526312.1:p.Cys696Phe
XR_001753685.2:n.2204G>T
XR_001753686.2:n.2064G>T
NM_000527.5:c.2087G>T MANE Select	NP_000518.1:p.Cys696Phe
NM_001195798.2:c.2087G>T	NP_001182727.1:p.Cys696Phe
NM_001195799.2:c.1964G>T	NP_001182728.1:p.Cys655Phe
NM_001195800.2:c.1583G>T	NP_001182729.1:p.Cys528Phe
NM_001195803.2:c.1606+236G>T	NP_001182732.1:n.1606+236G>T