Canonical Allele Identifier: CA2322775435
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120217C= , CM000681.2:g.11120217C= GRCh38
NC_000019.9:g.11230893C= , CM000681.1:g.11230893C= GRCh37
NC_000019.8:g.11091893C= NCBI36
NG_009060.1:g.35837C= , LRG_274:g.35837C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2229C= ENSP00000252444.6:p.Asn743=
ENST00000559340.2:c.*40C= ENSP00000453696.2:n.*40C=
ENST00000560467.2:c.1851C= ENSP00000453513.2:p.Asn617=
ENST00000558518.6:c.1971C= MANE Select ENSP00000454071.1:p.Asn657=
ENST00000252444.9:c.2225C=
ENST00000455727.6:c.1467C= ENSP00000397829.2:p.Asn489=
ENST00000535915.5:c.1848C= ENSP00000440520.1:p.Asn616=
ENST00000545707.5:c.1590C= ENSP00000437639.1:p.Asn530=
ENST00000557933.5:c.1971C= ENSP00000453557.1:p.Asn657=
ENST00000558013.5:c.1971C= ENSP00000453346.1:p.Asn657=
ENST00000558518.5:c.1971C= ENSP00000454071.1:p.Asn657=
ENST00000559340.1:c.552C=
NM_000527.4:c.1971C= , LRG_274t1:c.1971C= NP_000518.1:p.Asn657=
NM_001195798.1:c.1971C= NP_001182727.1:p.Asn657=
NM_001195799.1:c.1848C= NP_001182728.1:p.Asn616=
NM_001195800.1:c.1467C= NP_001182729.1:p.Asn489=
NM_001195803.1:c.1590C= NP_001182732.1:p.Asn530=
XM_011528010.1:c.1971C= XP_011526312.1:p.Asn657=
XM_011528011.1:c.1590C= XP_011526313.1:p.Asn530=
XR_244074.2:n.1981C=
XM_011528010.2:c.1971C= XP_011526312.1:p.Asn657=
XR_001753685.2:n.2088C=
XR_001753686.2:n.1948C=
NM_000527.5:c.1971C= MANE Select NP_000518.1:p.Asn657=
NM_001195798.2:c.1971C= NP_001182727.1:p.Asn657=
NM_001195799.2:c.1848C= NP_001182728.1:p.Asn616=
NM_001195800.2:c.1467C= NP_001182729.1:p.Asn489=
NM_001195803.2:c.1590C= NP_001182732.1:p.Asn530=