Canonical Allele Identifier: CA404093338

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120231-G-C
• MyVariant Identifiers: chr19:g.11230907G>C (hg19) ; chr19:g.11120231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120231G>C , CM000681.2:g.11120231G>C	GRCh38
NC_000019.9:g.11230907G>C , CM000681.1:g.11230907G>C	GRCh37
NC_000019.8:g.11091907G>C	NCBI36
NG_009060.1:g.35851G>C , LRG_274:g.35851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2243G>C	ENSP00000252444.6:p.Arg748Thr
ENST00000559340.2:c.*54G>C	ENSP00000453696.2:n.*54G>C
ENST00000560467.2:c.1865G>C	ENSP00000453513.2:p.Arg622Thr
ENST00000558518.6:c.1985G>C MANE Select	ENSP00000454071.1:p.Arg662Thr
ENST00000252444.9:c.2239G>C
ENST00000455727.6:c.1481G>C	ENSP00000397829.2:p.Arg494Thr
ENST00000535915.5:c.1862G>C	ENSP00000440520.1:p.Arg621Thr
ENST00000545707.5:c.1604G>C	ENSP00000437639.1:p.Arg535Thr
ENST00000557933.5:c.1985G>C	ENSP00000453557.1:p.Arg662Thr
ENST00000558013.5:c.1985G>C	ENSP00000453346.1:p.Arg662Thr
ENST00000558518.5:c.1985G>C	ENSP00000454071.1:p.Arg662Thr
ENST00000559340.1:c.566G>C
NM_000527.4:c.1985G>C , LRG_274t1:c.1985G>C	NP_000518.1:p.Arg662Thr
NM_001195798.1:c.1985G>C	NP_001182727.1:p.Arg662Thr
NM_001195799.1:c.1862G>C	NP_001182728.1:p.Arg621Thr
NM_001195800.1:c.1481G>C	NP_001182729.1:p.Arg494Thr
NM_001195803.1:c.1604G>C	NP_001182732.1:p.Arg535Thr
XM_011528010.1:c.1985G>C	XP_011526312.1:p.Arg662Thr
XM_011528011.1:c.1604G>C	XP_011526313.1:p.Arg535Thr
XR_244074.2:n.1995G>C
XM_011528010.2:c.1985G>C	XP_011526312.1:p.Arg662Thr
XR_001753685.2:n.2102G>C
XR_001753686.2:n.1962G>C
NM_000527.5:c.1985G>C MANE Select	NP_000518.1:p.Arg662Thr
NM_001195798.2:c.1985G>C	NP_001182727.1:p.Arg662Thr
NM_001195799.2:c.1862G>C	NP_001182728.1:p.Arg621Thr
NM_001195800.2:c.1481G>C	NP_001182729.1:p.Arg494Thr
NM_001195803.2:c.1604G>C	NP_001182732.1:p.Arg535Thr