Canonical Allele Identifier: CA10585119

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251438
• ClinVar RCV Id: RCV000238225
• PubMed: PMID:15823276

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106632_11106633delinsAC , CM000681.2:g.11106632_11106633delinsAC	GRCh38
NC_000019.9:g.11217308_11217309delinsAC , CM000681.1:g.11217308_11217309delinsAC	GRCh37
NC_000019.8:g.11078308_11078309delinsAC	NCBI36
NG_009060.1:g.22252_22253delinsAC , LRG_274:g.22252_22253delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1020_1021delinsAC	ENSP00000252444.6:p.Cys341Arg
ENST00000559340.2:c.762_763delinsAC	ENSP00000453696.2:p.Cys255Arg
ENST00000560467.2:c.762_763delinsAC	ENSP00000453513.2:p.Cys255Arg
ENST00000558518.6:c.762_763delinsAC MANE Select	ENSP00000454071.1:p.Cys255Arg
ENST00000252444.9:c.1016_1017delinsAC
ENST00000455727.6:c.314-760_314-759delinsAC	ENSP00000397829.2:n.314-760_314-759delins...
ENST00000535915.5:c.639_640delinsAC	ENSP00000440520.1:p.Cys214Arg
ENST00000545707.5:c.381_382delinsAC	ENSP00000437639.1:p.Cys128Arg
ENST00000557933.5:c.762_763delinsAC	ENSP00000453557.1:p.Cys255Arg
ENST00000558013.5:c.762_763delinsAC	ENSP00000453346.1:p.Cys255Arg
ENST00000558518.5:c.762_763delinsAC	ENSP00000454071.1:p.Cys255Arg
ENST00000558528.1:n.277_278delinsAC
ENST00000560467.1:c.362_363delinsAC
NM_000527.4:c.762_763delinsAC , LRG_274t1:c.762_763delinsAC	NP_000518.1:p.Cys255Arg
NM_001195798.1:c.762_763delinsAC	NP_001182727.1:p.Cys255Arg
NM_001195799.1:c.639_640delinsAC	NP_001182728.1:p.Cys214Arg
NM_001195800.1:c.314-760_314-759delinsAC	NP_001182729.1:n.314-760_314-759delinsAC
NM_001195803.1:c.381_382delinsAC	NP_001182732.1:p.Cys128Arg
XM_011528010.1:c.762_763delinsAC	XP_011526312.1:p.Cys255Arg
XM_011528011.1:c.381_382delinsAC	XP_011526313.1:p.Cys128Arg
XR_244074.2:n.912_913delinsAC
XM_011528010.2:c.762_763delinsAC	XP_011526312.1:p.Cys255Arg
XR_001753685.2:n.879_880delinsAC
XR_001753686.2:n.879_880delinsAC
NM_000527.5:c.762_763delinsAC MANE Select	NP_000518.1:p.Cys255Arg
NM_001195798.2:c.762_763delinsAC	NP_001182727.1:p.Cys255Arg
NM_001195799.2:c.639_640delinsAC	NP_001182728.1:p.Cys214Arg
NM_001195800.2:c.314-760_314-759delinsAC	NP_001182729.1:n.314-760_314-759delinsAC
NM_001195803.2:c.381_382delinsAC	NP_001182732.1:p.Cys128Arg