Canonical Allele Identifier: CA645509275

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440622
• ClinVar RCV Id: RCV000508924
• dbSNP Id: rs1555804700
• MyVariant Identifiers: chr19:g.11222193dup (hg19) ; chr19:g.11111517dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111517dup , CM000681.2:g.11111517dup	GRCh38
NC_000019.9:g.11222193dup , CM000681.1:g.11222193dup	GRCh37
NC_000019.8:g.11083193dup	NCBI36
NG_009060.1:g.27137dup , LRG_274:g.27137dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1322dup	ENSP00000252444.6:p.Asp442ArgfsTer2
ENST00000559340.2:c.1064dup	ENSP00000453696.2:p.Asp356ArgfsTer2
ENST00000560467.2:c.944dup	ENSP00000453513.2:p.Asp316ArgfsTer2
ENST00000558518.6:c.1064dup MANE Select	ENSP00000454071.1:p.Asp356ArgfsTer2
ENST00000252444.9:c.1318dup
ENST00000455727.6:c.560dup	ENSP00000397829.2:p.Asp188ArgfsTer2
ENST00000535915.5:c.941dup	ENSP00000440520.1:p.Asp315ArgfsTer2
ENST00000545707.5:c.683dup	ENSP00000437639.1:p.Asp229ArgfsTer2
ENST00000557933.5:c.1064dup	ENSP00000453557.1:p.Asp356ArgfsTer2
ENST00000558013.5:c.1064dup	ENSP00000453346.1:p.Asp356ArgfsTer2
ENST00000558518.5:c.1064dup	ENSP00000454071.1:p.Asp356ArgfsTer2
ENST00000560173.1:n.63dup
ENST00000560467.1:c.544dup
NM_000527.4:c.1064dup , LRG_274t1:c.1064dup	NP_000518.1:p.Asp356ArgfsTer2
NM_001195798.1:c.1064dup	NP_001182727.1:p.Asp356ArgfsTer2
NM_001195799.1:c.941dup	NP_001182728.1:p.Asp315ArgfsTer2
NM_001195800.1:c.560dup	NP_001182729.1:p.Asp188ArgfsTer2
NM_001195803.1:c.683dup	NP_001182732.1:p.Asp229ArgfsTer2
XM_011528010.1:c.1064dup	XP_011526312.1:p.Asp356ArgfsTer2
XM_011528011.1:c.683dup	XP_011526313.1:p.Asp229ArgfsTer2
XR_244074.2:n.1214dup
XM_011528010.2:c.1064dup	XP_011526312.1:p.Asp356ArgfsTer2
XR_001753685.2:n.1181dup
XR_001753686.2:n.1181dup
NM_000527.5:c.1064dup MANE Select	NP_000518.1:p.Asp356ArgfsTer2
NM_001195798.2:c.1064dup	NP_001182727.1:p.Asp356ArgfsTer2
NM_001195799.2:c.941dup	NP_001182728.1:p.Asp315ArgfsTer2
NM_001195800.2:c.560dup	NP_001182729.1:p.Asp188ArgfsTer2
NM_001195803.2:c.683dup	NP_001182732.1:p.Asp229ArgfsTer2