Canonical Allele Identifier: CA404083511

Gene: LDLR

Linked Data

• ClinVar Variation Id: 574051
• ClinVar RCV Id: RCV000695884 ; RCV003999647
• dbSNP Id: rs879254797
• MyVariant Identifiers: chr19:g.11222247G>C (hg19) ; chr19:g.11111571G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111571G>C , CM000681.2:g.11111571G>C	GRCh38
NC_000019.9:g.11222247G>C , CM000681.1:g.11222247G>C	GRCh37
NC_000019.8:g.11083247G>C	NCBI36
NG_009060.1:g.27191G>C , LRG_274:g.27191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1376G>C	ENSP00000252444.6:p.Gly459Ala
ENST00000559340.2:c.1118G>C	ENSP00000453696.2:p.Gly373Ala
ENST00000560467.2:c.998G>C	ENSP00000453513.2:p.Gly333Ala
ENST00000558518.6:c.1118G>C MANE Select	ENSP00000454071.1:p.Gly373Ala
ENST00000252444.9:c.1372G>C
ENST00000455727.6:c.614G>C	ENSP00000397829.2:p.Gly205Ala
ENST00000535915.5:c.995G>C	ENSP00000440520.1:p.Gly332Ala
ENST00000545707.5:c.737G>C	ENSP00000437639.1:p.Gly246Ala
ENST00000557933.5:c.1118G>C	ENSP00000453557.1:p.Gly373Ala
ENST00000558013.5:c.1118G>C	ENSP00000453346.1:p.Gly373Ala
ENST00000558518.5:c.1118G>C	ENSP00000454071.1:p.Gly373Ala
ENST00000560173.1:n.117G>C
ENST00000560467.1:c.598G>C
NM_000527.4:c.1118G>C , LRG_274t1:c.1118G>C	NP_000518.1:p.Gly373Ala
NM_001195798.1:c.1118G>C	NP_001182727.1:p.Gly373Ala
NM_001195799.1:c.995G>C	NP_001182728.1:p.Gly332Ala
NM_001195800.1:c.614G>C	NP_001182729.1:p.Gly205Ala
NM_001195803.1:c.737G>C	NP_001182732.1:p.Gly246Ala
XM_011528010.1:c.1118G>C	XP_011526312.1:p.Gly373Ala
XM_011528011.1:c.737G>C	XP_011526313.1:p.Gly246Ala
XR_244074.2:n.1268G>C
XM_011528010.2:c.1118G>C	XP_011526312.1:p.Gly373Ala
XR_001753685.2:n.1235G>C
XR_001753686.2:n.1235G>C
NM_000527.5:c.1118G>C MANE Select	NP_000518.1:p.Gly373Ala
NM_001195798.2:c.1118G>C	NP_001182727.1:p.Gly373Ala
NM_001195799.2:c.995G>C	NP_001182728.1:p.Gly332Ala
NM_001195800.2:c.614G>C	NP_001182729.1:p.Gly205Ala
NM_001195803.2:c.737G>C	NP_001182732.1:p.Gly246Ala