Canonical Allele Identifier: CA404093972

Gene: LDLR

Linked Data

• dbSNP Id: rs1269585025
• gnomAD v2: 19-11231186-A-G
• gnomAD v4: 19-11120510-A-G
• MyVariant Identifiers: chr19:g.11231186A>G (hg19) ; chr19:g.11120510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120510A>G , CM000681.2:g.11120510A>G	GRCh38
NC_000019.9:g.11231186A>G , CM000681.1:g.11231186A>G	GRCh37
NC_000019.8:g.11092186A>G	NCBI36
NG_009060.1:g.36130A>G , LRG_274:g.36130A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2386A>G	ENSP00000252444.6:p.Ser796Gly
ENST00000559340.2:c.*197A>G	ENSP00000453696.2:n.*197A>G
ENST00000560467.2:c.2008A>G	ENSP00000453513.2:p.Ser670Gly
ENST00000558518.6:c.2128A>G MANE Select	ENSP00000454071.1:p.Ser710Gly
ENST00000252444.9:c.2382A>G
ENST00000455727.6:c.1624A>G	ENSP00000397829.2:p.Ser542Gly
ENST00000535915.5:c.2005A>G	ENSP00000440520.1:p.Ser669Gly
ENST00000545707.5:c.1606+277A>G	ENSP00000437639.1:n.1606+277A>G
ENST00000557933.5:c.2128A>G	ENSP00000453557.1:p.Ser710Gly
ENST00000558013.5:c.2128A>G	ENSP00000453346.1:p.Ser710Gly
ENST00000558518.5:c.2128A>G	ENSP00000454071.1:p.Ser710Gly
NM_000527.4:c.2128A>G , LRG_274t1:c.2128A>G	NP_000518.1:p.Ser710Gly
NM_001195798.1:c.2128A>G	NP_001182727.1:p.Ser710Gly
NM_001195799.1:c.2005A>G	NP_001182728.1:p.Ser669Gly
NM_001195800.1:c.1624A>G	NP_001182729.1:p.Ser542Gly
NM_001195803.1:c.1606+277A>G	NP_001182732.1:n.1606+277A>G
XM_011528010.1:c.2128A>G	XP_011526312.1:p.Ser710Gly
XM_011528011.1:c.1747A>G	XP_011526313.1:p.Ser583Gly
XR_244074.2:n.2138A>G
XM_011528010.2:c.2128A>G	XP_011526312.1:p.Ser710Gly
XR_001753685.2:n.2245A>G
XR_001753686.2:n.2105A>G
NM_000527.5:c.2128A>G MANE Select	NP_000518.1:p.Ser710Gly
NM_001195798.2:c.2128A>G	NP_001182727.1:p.Ser710Gly
NM_001195799.2:c.2005A>G	NP_001182728.1:p.Ser669Gly
NM_001195800.2:c.1624A>G	NP_001182729.1:p.Ser542Gly
NM_001195803.2:c.1606+277A>G	NP_001182732.1:n.1606+277A>G