Canonical Allele Identifier: CA993516066

Gene: LDLR

Linked Data

• dbSNP Id: rs2077365921
• gnomAD v3: 19-11110841-G-C
• gnomAD v4: 19-11110841-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110841G>C , CM000681.2:g.11110841G>C	GRCh38
NC_000019.9:g.11221517G>C , CM000681.1:g.11221517G>C	GRCh37
NC_000019.8:g.11082517G>C	NCBI36
NG_009060.1:g.26461G>C , LRG_274:g.26461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1318+70G>C	ENSP00000252444.6:n.1318+70G>C
ENST00000559340.2:c.1060+70G>C	ENSP00000453696.2:n.1060+70G>C
ENST00000560467.2:c.941-673G>C	ENSP00000453513.2:n.941-673G>C
ENST00000558518.6:c.1060+70G>C MANE Select	ENSP00000454071.1:n.1060+70G>C
ENST00000252444.9:c.1314+70G>C
ENST00000455727.6:c.556+70G>C	ENSP00000397829.2:n.556+70G>C
ENST00000535915.5:c.937+70G>C	ENSP00000440520.1:n.937+70G>C
ENST00000545707.5:c.679+70G>C	ENSP00000437639.1:n.679+70G>C
ENST00000557933.5:c.1060+70G>C	ENSP00000453557.1:n.1060+70G>C
ENST00000558013.5:c.1060+70G>C	ENSP00000453346.1:n.1060+70G>C
ENST00000558518.5:c.1060+70G>C	ENSP00000454071.1:n.1060+70G>C
ENST00000560173.1:n.59+70G>C
ENST00000560467.1:c.541-673G>C
NM_000527.4:c.1060+70G>C , LRG_274t1:c.1060+70G>C	NP_000518.1:n.1060+70G>C
NM_001195798.1:c.1060+70G>C	NP_001182727.1:n.1060+70G>C
NM_001195799.1:c.937+70G>C	NP_001182728.1:n.937+70G>C
NM_001195800.1:c.556+70G>C	NP_001182729.1:n.556+70G>C
NM_001195803.1:c.679+70G>C	NP_001182732.1:n.679+70G>C
XM_011528010.1:c.1060+70G>C	XP_011526312.1:n.1060+70G>C
XM_011528011.1:c.679+70G>C	XP_011526313.1:n.679+70G>C
XR_244074.2:n.1210+70G>C
XM_011528010.2:c.1060+70G>C	XP_011526312.1:n.1060+70G>C
XR_001753685.2:n.1177+70G>C
XR_001753686.2:n.1177+70G>C
NM_000527.5:c.1060+70G>C MANE Select	NP_000518.1:n.1060+70G>C
NM_001195798.2:c.1060+70G>C	NP_001182727.1:n.1060+70G>C
NM_001195799.2:c.937+70G>C	NP_001182728.1:n.937+70G>C
NM_001195800.2:c.556+70G>C	NP_001182729.1:n.556+70G>C
NM_001195803.2:c.679+70G>C	NP_001182732.1:n.679+70G>C