Canonical Allele Identifier: CA993520427
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077529065

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120341C>T , CM000681.2:g.11120341C>T GRCh38
NC_000019.9:g.11231017C>T , CM000681.1:g.11231017C>T GRCh37
NC_000019.8:g.11092017C>T NCBI36
NG_009060.1:g.35961C>T , LRG_274:g.35961C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2246-29C>T ENSP00000252444.6:n.2246-29C>T
ENST00000559340.2:c.*57-29C>T ENSP00000453696.2:n.*57-29C>T
ENST00000560467.2:c.1868-29C>T ENSP00000453513.2:n.1868-29C>T
ENST00000558518.6:c.1988-29C>T MANE Select ENSP00000454071.1:n.1988-29C>T
ENST00000252444.9:c.2242-29C>T
ENST00000455727.6:c.1484-29C>T ENSP00000397829.2:n.1484-29C>T
ENST00000535915.5:c.1865-29C>T ENSP00000440520.1:n.1865-29C>T
ENST00000545707.5:c.1606+108C>T ENSP00000437639.1:n.1606+108C>T
ENST00000557933.5:c.1988-29C>T ENSP00000453557.1:n.1988-29C>T
ENST00000558013.5:c.1988-29C>T ENSP00000453346.1:n.1988-29C>T
ENST00000558518.5:c.1988-29C>T ENSP00000454071.1:n.1988-29C>T
ENST00000559340.1:c.569-29C>T
NM_000527.4:c.1988-29C>T , LRG_274t1:c.1988-29C>T NP_000518.1:n.1988-29C>T
NM_001195798.1:c.1988-29C>T NP_001182727.1:n.1988-29C>T
NM_001195799.1:c.1865-29C>T NP_001182728.1:n.1865-29C>T
NM_001195800.1:c.1484-29C>T NP_001182729.1:n.1484-29C>T
NM_001195803.1:c.1606+108C>T NP_001182732.1:n.1606+108C>T
XM_011528010.1:c.1988-29C>T XP_011526312.1:n.1988-29C>T
XM_011528011.1:c.1607-29C>T XP_011526313.1:n.1607-29C>T
XR_244074.2:n.1998-29C>T
XM_011528010.2:c.1988-29C>T XP_011526312.1:n.1988-29C>T
XR_001753685.2:n.2105-29C>T
XR_001753686.2:n.1965-29C>T
NM_000527.5:c.1988-29C>T MANE Select NP_000518.1:n.1988-29C>T
NM_001195798.2:c.1988-29C>T NP_001182727.1:n.1988-29C>T
NM_001195799.2:c.1865-29C>T NP_001182728.1:n.1865-29C>T
NM_001195800.2:c.1484-29C>T NP_001182729.1:n.1484-29C>T
NM_001195803.2:c.1606+108C>T NP_001182732.1:n.1606+108C>T