Canonical Allele Identifier: CA404095215

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2696143
• ClinVar RCV Id: RCV003582182
• MyVariant Identifiers: chr19:g.11233943C>T (hg19) ; chr19:g.11123267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123267C>T , CM000681.2:g.11123267C>T	GRCh38
NC_000019.9:g.11233943C>T , CM000681.1:g.11233943C>T	GRCh37
NC_000019.8:g.11094943C>T	NCBI36
NG_009060.1:g.38887C>T , LRG_274:g.38887C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2492C>T	ENSP00000252444.6:p.Pro831Leu
ENST00000559340.2:c.*303C>T	ENSP00000453696.2:n.*303C>T
ENST00000560467.2:c.2114C>T	ENSP00000453513.2:p.Pro705Leu
ENST00000558518.6:c.2234C>T MANE Select	ENSP00000454071.1:p.Pro745Leu
ENST00000252444.9:c.2488C>T
ENST00000455727.6:c.1730C>T	ENSP00000397829.2:p.Pro577Leu
ENST00000535915.5:c.2111C>T	ENSP00000440520.1:p.Pro704Leu
ENST00000545707.5:c.1700C>T	ENSP00000437639.1:p.Pro567Leu
ENST00000557933.5:c.2234C>T	ENSP00000453557.1:p.Pro745Leu
ENST00000558013.5:c.2234C>T	ENSP00000453346.1:p.Pro745Leu
ENST00000558518.5:c.2234C>T	ENSP00000454071.1:p.Pro745Leu
NM_000527.4:c.2234C>T , LRG_274t1:c.2234C>T	NP_000518.1:p.Pro745Leu
NM_001195798.1:c.2234C>T	NP_001182727.1:p.Pro745Leu
NM_001195799.1:c.2111C>T	NP_001182728.1:p.Pro704Leu
NM_001195800.1:c.1730C>T	NP_001182729.1:p.Pro577Leu
NM_001195803.1:c.1700C>T	NP_001182732.1:p.Pro567Leu
XM_011528010.1:c.2234C>T	XP_011526312.1:p.Pro745Leu
XM_011528011.1:c.1853C>T	XP_011526313.1:p.Pro618Leu
XR_244074.2:n.2244C>T
XM_011528010.2:c.2234C>T	XP_011526312.1:p.Pro745Leu
XR_001753685.2:n.2568C>T
XR_001753686.2:n.2211C>T
NM_000527.5:c.2234C>T MANE Select	NP_000518.1:p.Pro745Leu
NM_001195798.2:c.2234C>T	NP_001182727.1:p.Pro745Leu
NM_001195799.2:c.2111C>T	NP_001182728.1:p.Pro704Leu
NM_001195800.2:c.1730C>T	NP_001182729.1:p.Pro577Leu
NM_001195803.2:c.1700C>T	NP_001182732.1:p.Pro567Leu