Canonical Allele Identifier: CA038216

Gene: LDLR

Linked Data

• dbSNP Id: rs771722712
• ExAC: 19:11231085 G / C
• gnomAD v2: 19-11231085-G-C
• gnomAD v4: 19-11120409-G-C
• MyVariant Identifiers: chr19:g.11231085G>C (hg19) ; chr19:g.11120409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120409G>C , CM000681.2:g.11120409G>C	GRCh38
NC_000019.9:g.11231085G>C , CM000681.1:g.11231085G>C	GRCh37
NC_000019.8:g.11092085G>C	NCBI36
NG_009060.1:g.36029G>C , LRG_274:g.36029G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2285G>C	ENSP00000252444.6:p.Gly762Ala
ENST00000559340.2:c.*96G>C	ENSP00000453696.2:n.*96G>C
ENST00000560467.2:c.1907G>C	ENSP00000453513.2:p.Gly636Ala
ENST00000558518.6:c.2027G>C MANE Select	ENSP00000454071.1:p.Gly676Ala
ENST00000252444.9:c.2281G>C
ENST00000455727.6:c.1523G>C	ENSP00000397829.2:p.Gly508Ala
ENST00000535915.5:c.1904G>C	ENSP00000440520.1:p.Gly635Ala
ENST00000545707.5:c.1606+176G>C	ENSP00000437639.1:n.1606+176G>C
ENST00000557933.5:c.2027G>C	ENSP00000453557.1:p.Gly676Ala
ENST00000558013.5:c.2027G>C	ENSP00000453346.1:p.Gly676Ala
ENST00000558518.5:c.2027G>C	ENSP00000454071.1:p.Gly676Ala
NM_000527.4:c.2027G>C , LRG_274t1:c.2027G>C	NP_000518.1:p.Gly676Ala
NM_001195798.1:c.2027G>C	NP_001182727.1:p.Gly676Ala
NM_001195799.1:c.1904G>C	NP_001182728.1:p.Gly635Ala
NM_001195800.1:c.1523G>C	NP_001182729.1:p.Gly508Ala
NM_001195803.1:c.1606+176G>C	NP_001182732.1:n.1606+176G>C
XM_011528010.1:c.2027G>C	XP_011526312.1:p.Gly676Ala
XM_011528011.1:c.1646G>C	XP_011526313.1:p.Gly549Ala
XR_244074.2:n.2037G>C
XM_011528010.2:c.2027G>C	XP_011526312.1:p.Gly676Ala
XR_001753685.2:n.2144G>C
XR_001753686.2:n.2004G>C
NM_000527.5:c.2027G>C MANE Select	NP_000518.1:p.Gly676Ala
NM_001195798.2:c.2027G>C	NP_001182727.1:p.Gly676Ala
NM_001195799.2:c.1904G>C	NP_001182728.1:p.Gly635Ala
NM_001195800.2:c.1523G>C	NP_001182729.1:p.Gly508Ala
NM_001195803.2:c.1606+176G>C	NP_001182732.1:n.1606+176G>C