Canonical Allele Identifier: CA2322780293
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129596A= , CM000681.2:g.11129596A= GRCh38
NC_000019.9:g.11240272A= , CM000681.1:g.11240272A= GRCh37
NC_000019.8:g.11101272A= NCBI36
NG_009060.1:g.45216A= , LRG_274:g.45216A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2731A= ENSP00000252444.6:p.Asn911=
ENST00000559340.2:c.*542A= ENSP00000453696.2:n.*542A=
ENST00000560467.2:c.2353A= ENSP00000453513.2:p.Asn785=
ENST00000558518.6:c.2473A= MANE Select ENSP00000454071.1:p.Asn825=
ENST00000252444.9:c.2727A=
ENST00000455727.6:c.1969A= ENSP00000397829.2:p.Asn657=
ENST00000535915.5:c.2350A= ENSP00000440520.1:p.Asn784=
ENST00000545707.5:c.1939A= ENSP00000437639.1:p.Asn647=
ENST00000557933.5:c.2535A= ENSP00000453557.1:p.Thr845=
ENST00000558013.5:c.2473A= ENSP00000453346.1:p.Asn825=
ENST00000558518.5:c.2473A= ENSP00000454071.1:p.Asn825=
ENST00000560628.1:n.108+1942A=
NM_000527.4:c.2473A= , LRG_274t1:c.2473A= NP_000518.1:p.Asn825=
NM_001195798.1:c.2473A= NP_001182727.1:p.Asn825=
NM_001195799.1:c.2350A= NP_001182728.1:p.Asn784=
NM_001195800.1:c.1969A= NP_001182729.1:p.Asn657=
NM_001195803.1:c.1939A= NP_001182732.1:p.Asn647=
XM_011528010.1:c.2395A= XP_011526312.1:p.Asn799=
XM_011528011.1:c.2092A= XP_011526313.1:p.Asn698=
XM_011528010.2:c.2395A= XP_011526312.1:p.Asn799=
XR_001753685.2:n.2807A=
XR_001753686.2:n.2450A=
NM_000527.5:c.2473A= MANE Select NP_000518.1:p.Asn825=
NM_001195798.2:c.2473A= NP_001182727.1:p.Asn825=
NM_001195799.2:c.2350A= NP_001182728.1:p.Asn784=
NM_001195800.2:c.1969A= NP_001182729.1:p.Asn657=
NM_001195803.2:c.1939A= NP_001182732.1:p.Asn647=