Canonical Allele Identifier: CA2322780328
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129658C= , CM000681.2:g.11129658C= GRCh38
NC_000019.9:g.11240334C= , CM000681.1:g.11240334C= GRCh37
NC_000019.8:g.11101334C= NCBI36
NG_009060.1:g.45278C= , LRG_274:g.45278C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2793C= ENSP00000252444.6:p.Tyr931=
ENST00000559340.2:c.*604C= ENSP00000453696.2:n.*604C=
ENST00000560467.2:c.2415C= ENSP00000453513.2:p.Tyr805=
ENST00000558518.6:c.2535C= MANE Select ENSP00000454071.1:p.Tyr845=
ENST00000252444.9:c.2789C=
ENST00000455727.6:c.2031C= ENSP00000397829.2:p.Tyr677=
ENST00000535915.5:c.2412C= ENSP00000440520.1:p.Tyr804=
ENST00000545707.5:c.2001C= ENSP00000437639.1:p.Tyr667=
ENST00000557933.5:c.2597C= ENSP00000453557.1:p.Thr866=
ENST00000558013.5:c.2535C= ENSP00000453346.1:p.Tyr845=
ENST00000558518.5:c.2535C= ENSP00000454071.1:p.Tyr845=
ENST00000560628.1:n.108+2004C=
NM_000527.4:c.2535C= , LRG_274t1:c.2535C= NP_000518.1:p.Tyr845=
NM_001195798.1:c.2535C= NP_001182727.1:p.Tyr845=
NM_001195799.1:c.2412C= NP_001182728.1:p.Tyr804=
NM_001195800.1:c.2031C= NP_001182729.1:p.Tyr677=
NM_001195803.1:c.2001C= NP_001182732.1:p.Tyr667=
XM_011528010.1:c.2457C= XP_011526312.1:p.Tyr819=
XM_011528011.1:c.2154C= XP_011526313.1:p.Tyr718=
XM_011528010.2:c.2457C= XP_011526312.1:p.Tyr819=
XR_001753685.2:n.2869C=
XR_001753686.2:n.2512C=
NM_000527.5:c.2535C= MANE Select NP_000518.1:p.Tyr845=
NM_001195798.2:c.2535C= NP_001182727.1:p.Tyr845=
NM_001195799.2:c.2412C= NP_001182728.1:p.Tyr804=
NM_001195800.2:c.2031C= NP_001182729.1:p.Tyr677=
NM_001195803.2:c.2001C= NP_001182732.1:p.Tyr667=