Canonical Allele Identifier: CA404093280

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2582101
• ClinVar RCV Id: RCV003332807 ; RCV003581928 ; RCV004009741
• gnomAD v4: 19-11120216-A-G
• MyVariant Identifiers: chr19:g.11230892A>G (hg19) ; chr19:g.11120216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120216A>G , CM000681.2:g.11120216A>G	GRCh38
NC_000019.9:g.11230892A>G , CM000681.1:g.11230892A>G	GRCh37
NC_000019.8:g.11091892A>G	NCBI36
NG_009060.1:g.35836A>G , LRG_274:g.35836A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2228A>G	ENSP00000252444.6:p.Asn743Ser
ENST00000559340.2:c.*39A>G	ENSP00000453696.2:n.*39A>G
ENST00000560467.2:c.1850A>G	ENSP00000453513.2:p.Asn617Ser
ENST00000558518.6:c.1970A>G MANE Select	ENSP00000454071.1:p.Asn657Ser
ENST00000252444.9:c.2224A>G
ENST00000455727.6:c.1466A>G	ENSP00000397829.2:p.Asn489Ser
ENST00000535915.5:c.1847A>G	ENSP00000440520.1:p.Asn616Ser
ENST00000545707.5:c.1589A>G	ENSP00000437639.1:p.Asn530Ser
ENST00000557933.5:c.1970A>G	ENSP00000453557.1:p.Asn657Ser
ENST00000558013.5:c.1970A>G	ENSP00000453346.1:p.Asn657Ser
ENST00000558518.5:c.1970A>G	ENSP00000454071.1:p.Asn657Ser
ENST00000559340.1:c.551A>G
NM_000527.4:c.1970A>G , LRG_274t1:c.1970A>G	NP_000518.1:p.Asn657Ser
NM_001195798.1:c.1970A>G	NP_001182727.1:p.Asn657Ser
NM_001195799.1:c.1847A>G	NP_001182728.1:p.Asn616Ser
NM_001195800.1:c.1466A>G	NP_001182729.1:p.Asn489Ser
NM_001195803.1:c.1589A>G	NP_001182732.1:p.Asn530Ser
XM_011528010.1:c.1970A>G	XP_011526312.1:p.Asn657Ser
XM_011528011.1:c.1589A>G	XP_011526313.1:p.Asn530Ser
XR_244074.2:n.1980A>G
XM_011528010.2:c.1970A>G	XP_011526312.1:p.Asn657Ser
XR_001753685.2:n.2087A>G
XR_001753686.2:n.1947A>G
NM_000527.5:c.1970A>G MANE Select	NP_000518.1:p.Asn657Ser
NM_001195798.2:c.1970A>G	NP_001182727.1:p.Asn657Ser
NM_001195799.2:c.1847A>G	NP_001182728.1:p.Asn616Ser
NM_001195800.2:c.1466A>G	NP_001182729.1:p.Asn489Ser
NM_001195803.2:c.1589A>G	NP_001182732.1:p.Asn530Ser