Canonical Allele Identifier: CA16602344

Gene: LDLR

Linked Data

• ClinVar Variation Id: 375830
• ClinVar RCV Id: RCV000417349
• dbSNP Id: rs879255130
• MyVariant Identifiers: chr19:g.11231126dupC (hg19) ; chr19:g.11120450dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120450dup , CM000681.2:g.11120450dup	GRCh38
NC_000019.9:g.11231126dup , CM000681.1:g.11231126dup	GRCh37
NC_000019.8:g.11092126dup	NCBI36
NG_009060.1:g.36070dup , LRG_274:g.36070dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2326dup	ENSP00000252444.6:p.His776ProfsTer27
ENST00000559340.2:c.*137dup	ENSP00000453696.2:n.*137dup
ENST00000560467.2:c.1948dup	ENSP00000453513.2:p.His650ProfsTer27
ENST00000558518.6:c.2068dup MANE Select	ENSP00000454071.1:p.His690ProfsTer27
ENST00000252444.9:c.2322dup
ENST00000455727.6:c.1564dup	ENSP00000397829.2:p.His522ProfsTer27
ENST00000535915.5:c.1945dup	ENSP00000440520.1:p.His649ProfsTer27
ENST00000545707.5:c.1606+217dup	ENSP00000437639.1:n.1606+217dup
ENST00000557933.5:c.2068dup	ENSP00000453557.1:p.His690ProfsTer27
ENST00000558013.5:c.2068dup	ENSP00000453346.1:p.His690ProfsTer27
ENST00000558518.5:c.2068dup	ENSP00000454071.1:p.His690ProfsTer27
NM_000527.4:c.2068dup , LRG_274t1:c.2068dup	NP_000518.1:p.His690ProfsTer27
NM_001195798.1:c.2068dup	NP_001182727.1:p.His690ProfsTer27
NM_001195799.1:c.1945dup	NP_001182728.1:p.His649ProfsTer27
NM_001195800.1:c.1564dup	NP_001182729.1:p.His522ProfsTer27
NM_001195803.1:c.1606+217dup	NP_001182732.1:n.1606+217dup
XM_011528010.1:c.2068dup	XP_011526312.1:p.His690ProfsTer27
XM_011528011.1:c.1687dup	XP_011526313.1:p.His563ProfsTer27
XR_244074.2:n.2078dup
XM_011528010.2:c.2068dup	XP_011526312.1:p.His690ProfsTer27
XR_001753685.2:n.2185dup
XR_001753686.2:n.2045dup
NM_000527.5:c.2068dup MANE Select	NP_000518.1:p.His690ProfsTer27
NM_001195798.2:c.2068dup	NP_001182727.1:p.His690ProfsTer27
NM_001195799.2:c.1945dup	NP_001182728.1:p.His649ProfsTer27
NM_001195800.2:c.1564dup	NP_001182729.1:p.His522ProfsTer27
NM_001195803.2:c.1606+217dup	NP_001182732.1:n.1606+217dup