Canonical Allele Identifier: CA036928

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2738230
• ClinVar RCV Id: RCV003581492
• dbSNP Id: rs759867686
• ExAC: 19:11227689 C / T
• gnomAD v2: 19-11227689-C-T
• gnomAD v4: 19-11117013-C-T
• MyVariant Identifiers: chr19:g.11227689C>T (hg19) ; chr19:g.11117013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117013C>T , CM000681.2:g.11117013C>T	GRCh38
NC_000019.9:g.11227689C>T , CM000681.1:g.11227689C>T	GRCh37
NC_000019.8:g.11088689C>T	NCBI36
NG_009060.1:g.32633C>T , LRG_274:g.32633C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2103+15C>T	ENSP00000252444.6:n.2103+15C>T
ENST00000559340.2:c.1705+801C>T	ENSP00000453696.2:n.1705+801C>T
ENST00000560467.2:c.1725+15C>T	ENSP00000453513.2:n.1725+15C>T
ENST00000558518.6:c.1845+15C>T MANE Select	ENSP00000454071.1:n.1845+15C>T
ENST00000252444.9:c.2099+15C>T
ENST00000455727.6:c.1341+15C>T	ENSP00000397829.2:n.1341+15C>T
ENST00000535915.5:c.1722+15C>T	ENSP00000440520.1:n.1722+15C>T
ENST00000545707.5:c.1464+15C>T	ENSP00000437639.1:n.1464+15C>T
ENST00000557933.5:c.1845+15C>T	ENSP00000453557.1:n.1845+15C>T
ENST00000558013.5:c.1845+15C>T	ENSP00000453346.1:n.1845+15C>T
ENST00000558518.5:c.1845+15C>T	ENSP00000454071.1:n.1845+15C>T
ENST00000559340.1:c.426+801C>T
NM_000527.4:c.1845+15C>T , LRG_274t1:c.1845+15C>T	NP_000518.1:n.1845+15C>T
NM_001195798.1:c.1845+15C>T	NP_001182727.1:n.1845+15C>T
NM_001195799.1:c.1722+15C>T	NP_001182728.1:n.1722+15C>T
NM_001195800.1:c.1341+15C>T	NP_001182729.1:n.1341+15C>T
NM_001195803.1:c.1464+15C>T	NP_001182732.1:n.1464+15C>T
XM_011528010.1:c.1845+15C>T	XP_011526312.1:n.1845+15C>T
XM_011528011.1:c.1464+15C>T	XP_011526313.1:n.1464+15C>T
XR_244074.2:n.1855+801C>T
XM_011528010.2:c.1845+15C>T	XP_011526312.1:n.1845+15C>T
XR_001753685.2:n.1962+15C>T
XR_001753686.2:n.1822+801C>T
NM_000527.5:c.1845+15C>T MANE Select	NP_000518.1:n.1845+15C>T
NM_001195798.2:c.1845+15C>T	NP_001182727.1:n.1845+15C>T
NM_001195799.2:c.1722+15C>T	NP_001182728.1:n.1722+15C>T
NM_001195800.2:c.1341+15C>T	NP_001182729.1:n.1341+15C>T
NM_001195803.2:c.1464+15C>T	NP_001182732.1:n.1464+15C>T