Canonical Allele Identifier: CA404093967

Gene: LDLR

Linked Data

• COSMIC: COSM1325514
• MyVariant Identifiers: chr19:g.11231184G>C (hg19) ; chr19:g.11120508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120508G>C , CM000681.2:g.11120508G>C	GRCh38
NC_000019.9:g.11231184G>C , CM000681.1:g.11231184G>C	GRCh37
NC_000019.8:g.11092184G>C	NCBI36
NG_009060.1:g.36128G>C , LRG_274:g.36128G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2384G>C	ENSP00000252444.6:p.Arg795Thr
ENST00000559340.2:c.*195G>C	ENSP00000453696.2:n.*195G>C
ENST00000560467.2:c.2006G>C	ENSP00000453513.2:p.Arg669Thr
ENST00000558518.6:c.2126G>C MANE Select	ENSP00000454071.1:p.Arg709Thr
ENST00000252444.9:c.2380G>C
ENST00000455727.6:c.1622G>C	ENSP00000397829.2:p.Arg541Thr
ENST00000535915.5:c.2003G>C	ENSP00000440520.1:p.Arg668Thr
ENST00000545707.5:c.1606+275G>C	ENSP00000437639.1:n.1606+275G>C
ENST00000557933.5:c.2126G>C	ENSP00000453557.1:p.Arg709Thr
ENST00000558013.5:c.2126G>C	ENSP00000453346.1:p.Arg709Thr
ENST00000558518.5:c.2126G>C	ENSP00000454071.1:p.Arg709Thr
NM_000527.4:c.2126G>C , LRG_274t1:c.2126G>C	NP_000518.1:p.Arg709Thr
NM_001195798.1:c.2126G>C	NP_001182727.1:p.Arg709Thr
NM_001195799.1:c.2003G>C	NP_001182728.1:p.Arg668Thr
NM_001195800.1:c.1622G>C	NP_001182729.1:p.Arg541Thr
NM_001195803.1:c.1606+275G>C	NP_001182732.1:n.1606+275G>C
XM_011528010.1:c.2126G>C	XP_011526312.1:p.Arg709Thr
XM_011528011.1:c.1745G>C	XP_011526313.1:p.Arg582Thr
XR_244074.2:n.2136G>C
XM_011528010.2:c.2126G>C	XP_011526312.1:p.Arg709Thr
XR_001753685.2:n.2243G>C
XR_001753686.2:n.2103G>C
NM_000527.5:c.2126G>C MANE Select	NP_000518.1:p.Arg709Thr
NM_001195798.2:c.2126G>C	NP_001182727.1:p.Arg709Thr
NM_001195799.2:c.2003G>C	NP_001182728.1:p.Arg668Thr
NM_001195800.2:c.1622G>C	NP_001182729.1:p.Arg541Thr
NM_001195803.2:c.1606+275G>C	NP_001182732.1:n.1606+275G>C