Canonical Allele Identifier: CA305299779
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1030358879

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111744dup , CM000681.2:g.11111744dup GRCh38
NC_000019.9:g.11222420dup , CM000681.1:g.11222420dup GRCh37
NC_000019.8:g.11083420dup NCBI36
NG_009060.1:g.27364dup , LRG_274:g.27364dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1444+105dup ENSP00000252444.6:n.1444+105dup
ENST00000559340.2:c.1186+105dup ENSP00000453696.2:n.1186+105dup
ENST00000560467.2:c.1066+105dup ENSP00000453513.2:n.1066+105dup
ENST00000558518.6:c.1186+105dup MANE Select ENSP00000454071.1:n.1186+105dup
ENST00000252444.9:c.1440+105dup
ENST00000455727.6:c.682+105dup ENSP00000397829.2:n.682+105dup
ENST00000535915.5:c.1063+105dup ENSP00000440520.1:n.1063+105dup
ENST00000545707.5:c.805+105dup ENSP00000437639.1:n.805+105dup
ENST00000557933.5:c.1186+105dup ENSP00000453557.1:n.1186+105dup
ENST00000558013.5:c.1186+105dup ENSP00000453346.1:n.1186+105dup
ENST00000558518.5:c.1186+105dup ENSP00000454071.1:n.1186+105dup
ENST00000560173.1:n.185+105dup
ENST00000560467.1:c.666+105dup
NM_000527.4:c.1186+105dup , LRG_274t1:c.1186+105dup NP_000518.1:n.1186+105dup
NM_001195798.1:c.1186+105dup NP_001182727.1:n.1186+105dup
NM_001195799.1:c.1063+105dup NP_001182728.1:n.1063+105dup
NM_001195800.1:c.682+105dup NP_001182729.1:n.682+105dup
NM_001195803.1:c.805+105dup NP_001182732.1:n.805+105dup
XM_011528010.1:c.1186+105dup XP_011526312.1:n.1186+105dup
XM_011528011.1:c.805+105dup XP_011526313.1:n.805+105dup
XR_244074.2:n.1336+105dup
XM_011528010.2:c.1186+105dup XP_011526312.1:n.1186+105dup
XR_001753685.2:n.1303+105dup
XR_001753686.2:n.1303+105dup
NM_000527.5:c.1186+105dup MANE Select NP_000518.1:n.1186+105dup
NM_001195798.2:c.1186+105dup NP_001182727.1:n.1186+105dup
NM_001195799.2:c.1063+105dup NP_001182728.1:n.1063+105dup
NM_001195800.2:c.682+105dup NP_001182729.1:n.682+105dup
NM_001195803.2:c.805+105dup NP_001182732.1:n.805+105dup