Canonical Allele Identifier: CA10585292

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251650
• ClinVar RCV Id: RCV000237742
• dbSNP Id: rs879254782
• MyVariant Identifiers: chr19:g.11222199_11222202dupAGTG (hg19) ; chr19:g.11111523_11111526dupAGTG (hg38)
• PubMed: PMID:16250003

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111523_11111526dup , CM000681.2:g.11111523_11111526dup	GRCh38
NC_000019.9:g.11222199_11222202dup , CM000681.1:g.11222199_11222202dup	GRCh37
NC_000019.8:g.11083199_11083202dup	NCBI36
NG_009060.1:g.27143_27146dup , LRG_274:g.27143_27146dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1328_1331dup	ENSP00000252444.6:p.Cys444Ter
ENST00000559340.2:c.1070_1073dup	ENSP00000453696.2:p.Cys358Ter
ENST00000560467.2:c.950_953dup	ENSP00000453513.2:p.Cys318Ter
ENST00000558518.6:c.1070_1073dup MANE Select	ENSP00000454071.1:p.Cys358Ter
ENST00000252444.9:c.1324_1327dup
ENST00000455727.6:c.566_569dup	ENSP00000397829.2:p.Cys190Ter
ENST00000535915.5:c.947_950dup	ENSP00000440520.1:p.Cys317Ter
ENST00000545707.5:c.689_692dup	ENSP00000437639.1:p.Cys231Ter
ENST00000557933.5:c.1070_1073dup	ENSP00000453557.1:p.Cys358Ter
ENST00000558013.5:c.1070_1073dup	ENSP00000453346.1:p.Cys358Ter
ENST00000558518.5:c.1070_1073dup	ENSP00000454071.1:p.Cys358Ter
ENST00000560173.1:n.69_72dup
ENST00000560467.1:c.550_553dup
NM_000527.4:c.1070_1073dup , LRG_274t1:c.1070_1073dup	NP_000518.1:p.Cys358Ter
NM_001195798.1:c.1070_1073dup	NP_001182727.1:p.Cys358Ter
NM_001195799.1:c.947_950dup	NP_001182728.1:p.Cys317Ter
NM_001195800.1:c.566_569dup	NP_001182729.1:p.Cys190Ter
NM_001195803.1:c.689_692dup	NP_001182732.1:p.Cys231Ter
XM_011528010.1:c.1070_1073dup	XP_011526312.1:p.Cys358Ter
XM_011528011.1:c.689_692dup	XP_011526313.1:p.Cys231Ter
XR_244074.2:n.1220_1223dup
XM_011528010.2:c.1070_1073dup	XP_011526312.1:p.Cys358Ter
XR_001753685.2:n.1187_1190dup
XR_001753686.2:n.1187_1190dup
NM_000527.5:c.1070_1073dup MANE Select	NP_000518.1:p.Cys358Ter
NM_001195798.2:c.1070_1073dup	NP_001182727.1:p.Cys358Ter
NM_001195799.2:c.947_950dup	NP_001182728.1:p.Cys317Ter
NM_001195800.2:c.566_569dup	NP_001182729.1:p.Cys190Ter
NM_001195803.2:c.689_692dup	NP_001182732.1:p.Cys231Ter