Canonical Allele Identifier: CA404098745
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129559C>T , CM000681.2:g.11129559C>T GRCh38
NC_000019.9:g.11240235C>T , CM000681.1:g.11240235C>T GRCh37
NC_000019.8:g.11101235C>T NCBI36
NG_009060.1:g.45179C>T , LRG_274:g.45179C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2694C>T ENSP00000252444.6:p.Asn898=
ENST00000559340.2:c.*505C>T ENSP00000453696.2:n.*505C>T
ENST00000560467.2:c.2316C>T ENSP00000453513.2:p.Asn772=
ENST00000558518.6:c.2436C>T MANE Select ENSP00000454071.1:p.Asn812=
ENST00000252444.9:c.2690C>T
ENST00000455727.6:c.1932C>T ENSP00000397829.2:p.Asn644=
ENST00000535915.5:c.2313C>T ENSP00000440520.1:p.Asn771=
ENST00000545707.5:c.1902C>T ENSP00000437639.1:p.Asn634=
ENST00000557933.5:c.2498C>T ENSP00000453557.1:p.Thr833Ile
ENST00000558013.5:c.2436C>T ENSP00000453346.1:p.Asn812=
ENST00000558518.5:c.2436C>T ENSP00000454071.1:p.Asn812=
ENST00000560628.1:n.108+1905C>T
NM_000527.4:c.2436C>T , LRG_274t1:c.2436C>T NP_000518.1:p.Asn812=
NM_001195798.1:c.2436C>T NP_001182727.1:p.Asn812=
NM_001195799.1:c.2313C>T NP_001182728.1:p.Asn771=
NM_001195800.1:c.1932C>T NP_001182729.1:p.Asn644=
NM_001195803.1:c.1902C>T NP_001182732.1:p.Asn634=
XM_011528010.1:c.2358C>T XP_011526312.1:p.Asn786=
XM_011528011.1:c.2055C>T XP_011526313.1:p.Asn685=
XR_244074.2:n.2446C>T
XM_011528010.2:c.2358C>T XP_011526312.1:p.Asn786=
XR_001753685.2:n.2770C>T
XR_001753686.2:n.2413C>T
NM_000527.5:c.2436C>T MANE Select NP_000518.1:p.Asn812=
NM_001195798.2:c.2436C>T NP_001182727.1:p.Asn812=
NM_001195799.2:c.2313C>T NP_001182728.1:p.Asn771=
NM_001195800.2:c.1932C>T NP_001182729.1:p.Asn644=
NM_001195803.2:c.1902C>T NP_001182732.1:p.Asn634=