Canonical Allele Identifier: CA404096689
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11238702G>A (hg19) chr19:g.11128026G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128026G>A , CM000681.2:g.11128026G>A GRCh38
NC_000019.9:g.11238702G>A , CM000681.1:g.11238702G>A GRCh37
NC_000019.8:g.11099702G>A NCBI36
NG_009060.1:g.43646G>A , LRG_274:g.43646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2588G>A ENSP00000252444.6:p.Gly863Asp
ENST00000559340.2:c.*399G>A ENSP00000453696.2:n.*399G>A
ENST00000560467.2:c.2210G>A ENSP00000453513.2:p.Gly737Asp
ENST00000558518.6:c.2330G>A MANE Select ENSP00000454071.1:p.Gly777Asp
ENST00000252444.9:c.2584G>A
ENST00000455727.6:c.1826G>A ENSP00000397829.2:p.Gly609Asp
ENST00000535915.5:c.2207G>A ENSP00000440520.1:p.Gly736Asp
ENST00000545707.5:c.1796G>A ENSP00000437639.1:p.Gly599Asp
ENST00000557933.5:c.2330G>A ENSP00000453557.1:p.Gly777Asp
ENST00000558013.5:c.2330G>A ENSP00000453346.1:p.Gly777Asp
ENST00000558518.5:c.2330G>A ENSP00000454071.1:p.Gly777Asp
ENST00000560628.1:n.108+372G>A
NM_000527.4:c.2330G>A , LRG_274t1:c.2330G>A NP_000518.1:p.Gly777Asp
NM_001195798.1:c.2330G>A NP_001182727.1:p.Gly777Asp
NM_001195799.1:c.2207G>A NP_001182728.1:p.Gly736Asp
NM_001195800.1:c.1826G>A NP_001182729.1:p.Gly609Asp
NM_001195803.1:c.1796G>A NP_001182732.1:p.Gly599Asp
XM_011528010.1:c.2312-1487G>A XP_011526312.1:n.2312-1487G>A
XM_011528011.1:c.1949G>A XP_011526313.1:p.Gly650Asp
XR_244074.2:n.2340G>A
XM_011528010.2:c.2312-1487G>A XP_011526312.1:n.2312-1487G>A
XR_001753685.2:n.2664G>A
XR_001753686.2:n.2307G>A
NM_000527.5:c.2330G>A MANE Select NP_000518.1:p.Gly777Asp
NM_001195798.2:c.2330G>A NP_001182727.1:p.Gly777Asp
NM_001195799.2:c.2207G>A NP_001182728.1:p.Gly736Asp
NM_001195800.2:c.1826G>A NP_001182729.1:p.Gly609Asp
NM_001195803.2:c.1796G>A NP_001182732.1:p.Gly599Asp
Search 100 bp 5'
Search 100 bp 3'