Canonical Allele Identifier: CA404099872
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240334C>A (hg19) chr19:g.11129658C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2793C>A ENSP00000252444.6:p.Tyr931Ter
ENST00000559340.2:c.*604C>A ENSP00000453696.2:n.*604C>A
ENST00000560467.2:c.2415C>A ENSP00000453513.2:p.Tyr805Ter
ENST00000558518.6:c.2535C>A MANE Select ENSP00000454071.1:p.Tyr845Ter
ENST00000252444.9:c.2789C>A
ENST00000455727.6:c.2031C>A ENSP00000397829.2:p.Tyr677Ter
ENST00000535915.5:c.2412C>A ENSP00000440520.1:p.Tyr804Ter
ENST00000545707.5:c.2001C>A ENSP00000437639.1:p.Tyr667Ter
ENST00000557933.5:c.2597C>A ENSP00000453557.1:p.Thr866Lys
ENST00000558013.5:c.2535C>A ENSP00000453346.1:p.Tyr845Ter
ENST00000558518.5:c.2535C>A ENSP00000454071.1:p.Tyr845Ter
ENST00000560628.1:n.108+2004C>A
NM_000527.4:c.2535C>A , LRG_274t1:c.2535C>A NP_000518.1:p.Tyr845Ter
NM_001195798.1:c.2535C>A NP_001182727.1:p.Tyr845Ter
NM_001195799.1:c.2412C>A NP_001182728.1:p.Tyr804Ter
NM_001195800.1:c.2031C>A NP_001182729.1:p.Tyr677Ter
NM_001195803.1:c.2001C>A NP_001182732.1:p.Tyr667Ter
XM_011528010.1:c.2457C>A XP_011526312.1:p.Tyr819Ter
XM_011528011.1:c.2154C>A XP_011526313.1:p.Tyr718Ter
XM_011528010.2:c.2457C>A XP_011526312.1:p.Tyr819Ter
XR_001753685.2:n.2869C>A
XR_001753686.2:n.2512C>A
NM_000527.5:c.2535C>A MANE Select NP_000518.1:p.Tyr845Ter
NM_001195798.2:c.2535C>A NP_001182727.1:p.Tyr845Ter
NM_001195799.2:c.2412C>A NP_001182728.1:p.Tyr804Ter
NM_001195800.2:c.2031C>A NP_001182729.1:p.Tyr677Ter
NM_001195803.2:c.2001C>A NP_001182732.1:p.Tyr667Ter
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