Canonical Allele Identifier: CA404084853

Gene: LDLR

Linked Data

• ClinVar Variation Id: 575372
• ClinVar RCV Id: RCV001275278 ; RCV002507217
• dbSNP Id: rs1327586053
• gnomAD v2: 19-11224040-A-G
• MyVariant Identifiers: chr19:g.11224040A>G (hg19) ; chr19:g.11113364A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113364A>G , CM000681.2:g.11113364A>G	GRCh38
NC_000019.9:g.11224040A>G , CM000681.1:g.11224040A>G	GRCh37
NC_000019.8:g.11085040A>G	NCBI36
NG_009060.1:g.28984A>G , LRG_274:g.28984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1531A>G	ENSP00000252444.6:p.Asn511Asp
ENST00000559340.2:c.1273A>G	ENSP00000453696.2:p.Asn425Asp
ENST00000560467.2:c.1153A>G	ENSP00000453513.2:p.Asn385Asp
ENST00000558518.6:c.1273A>G MANE Select	ENSP00000454071.1:p.Asn425Asp
ENST00000252444.9:c.1527A>G
ENST00000455727.6:c.769A>G	ENSP00000397829.2:p.Asn257Asp
ENST00000535915.5:c.1150A>G	ENSP00000440520.1:p.Asn384Asp
ENST00000545707.5:c.892A>G	ENSP00000437639.1:p.Asn298Asp
ENST00000557933.5:c.1273A>G	ENSP00000453557.1:p.Asn425Asp
ENST00000558013.5:c.1273A>G	ENSP00000453346.1:p.Asn425Asp
ENST00000558518.5:c.1273A>G	ENSP00000454071.1:p.Asn425Asp
ENST00000560173.1:n.272A>G
ENST00000560467.1:c.753A>G
NM_000527.4:c.1273A>G , LRG_274t1:c.1273A>G	NP_000518.1:p.Asn425Asp
NM_001195798.1:c.1273A>G	NP_001182727.1:p.Asn425Asp
NM_001195799.1:c.1150A>G	NP_001182728.1:p.Asn384Asp
NM_001195800.1:c.769A>G	NP_001182729.1:p.Asn257Asp
NM_001195803.1:c.892A>G	NP_001182732.1:p.Asn298Asp
XM_011528010.1:c.1273A>G	XP_011526312.1:p.Asn425Asp
XM_011528011.1:c.892A>G	XP_011526313.1:p.Asn298Asp
XR_244074.2:n.1423A>G
XM_011528010.2:c.1273A>G	XP_011526312.1:p.Asn425Asp
XR_001753685.2:n.1390A>G
XR_001753686.2:n.1390A>G
NM_000527.5:c.1273A>G MANE Select	NP_000518.1:p.Asn425Asp
NM_001195798.2:c.1273A>G	NP_001182727.1:p.Asn425Asp
NM_001195799.2:c.1150A>G	NP_001182728.1:p.Asn384Asp
NM_001195800.2:c.769A>G	NP_001182729.1:p.Asn257Asp
NM_001195803.2:c.892A>G	NP_001182732.1:p.Asn298Asp