Canonical Allele Identifier: CA404089671

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11227547G>C (hg19) ; chr19:g.11116871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116871G>C , CM000681.2:g.11116871G>C	GRCh38
NC_000019.9:g.11227547G>C , CM000681.1:g.11227547G>C	GRCh37
NC_000019.8:g.11088547G>C	NCBI36
NG_009060.1:g.32491G>C , LRG_274:g.32491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1976G>C	ENSP00000252444.6:p.Gly659Ala
ENST00000559340.2:c.1705+659G>C	ENSP00000453696.2:n.1705+659G>C
ENST00000560467.2:c.1598G>C	ENSP00000453513.2:p.Gly533Ala
ENST00000558518.6:c.1718G>C MANE Select	ENSP00000454071.1:p.Gly573Ala
ENST00000252444.9:c.1972G>C
ENST00000455727.6:c.1214G>C	ENSP00000397829.2:p.Gly405Ala
ENST00000535915.5:c.1595G>C	ENSP00000440520.1:p.Gly532Ala
ENST00000545707.5:c.1337G>C	ENSP00000437639.1:p.Gly446Ala
ENST00000557933.5:c.1718G>C	ENSP00000453557.1:p.Gly573Ala
ENST00000558013.5:c.1718G>C	ENSP00000453346.1:p.Gly573Ala
ENST00000558518.5:c.1718G>C	ENSP00000454071.1:p.Gly573Ala
ENST00000559340.1:c.426+659G>C
NM_000527.4:c.1718G>C , LRG_274t1:c.1718G>C	NP_000518.1:p.Gly573Ala
NM_001195798.1:c.1718G>C	NP_001182727.1:p.Gly573Ala
NM_001195799.1:c.1595G>C	NP_001182728.1:p.Gly532Ala
NM_001195800.1:c.1214G>C	NP_001182729.1:p.Gly405Ala
NM_001195803.1:c.1337G>C	NP_001182732.1:p.Gly446Ala
XM_011528010.1:c.1718G>C	XP_011526312.1:p.Gly573Ala
XM_011528011.1:c.1337G>C	XP_011526313.1:p.Gly446Ala
XR_244074.2:n.1855+659G>C
XM_011528010.2:c.1718G>C	XP_011526312.1:p.Gly573Ala
XR_001753685.2:n.1835G>C
XR_001753686.2:n.1822+659G>C
NM_000527.5:c.1718G>C MANE Select	NP_000518.1:p.Gly573Ala
NM_001195798.2:c.1718G>C	NP_001182727.1:p.Gly573Ala
NM_001195799.2:c.1595G>C	NP_001182728.1:p.Gly532Ala
NM_001195800.2:c.1214G>C	NP_001182729.1:p.Gly405Ala
NM_001195803.2:c.1337G>C	NP_001182732.1:p.Gly446Ala