Canonical Allele Identifier: CA404099856
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240332T>A (hg19) chr19:g.11129656T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129656T>A , CM000681.2:g.11129656T>A GRCh38
NC_000019.9:g.11240332T>A , CM000681.1:g.11240332T>A GRCh37
NC_000019.8:g.11101332T>A NCBI36
NG_009060.1:g.45276T>A , LRG_274:g.45276T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2791T>A ENSP00000252444.6:p.Tyr931Asn
ENST00000559340.2:c.*602T>A ENSP00000453696.2:n.*602T>A
ENST00000560467.2:c.2413T>A ENSP00000453513.2:p.Tyr805Asn
ENST00000558518.6:c.2533T>A MANE Select ENSP00000454071.1:p.Tyr845Asn
ENST00000252444.9:c.2787T>A
ENST00000455727.6:c.2029T>A ENSP00000397829.2:p.Tyr677Asn
ENST00000535915.5:c.2410T>A ENSP00000440520.1:p.Tyr804Asn
ENST00000545707.5:c.1999T>A ENSP00000437639.1:p.Tyr667Asn
ENST00000557933.5:c.2595T>A ENSP00000453557.1:p.Ala865=
ENST00000558013.5:c.2533T>A ENSP00000453346.1:p.Tyr845Asn
ENST00000558518.5:c.2533T>A ENSP00000454071.1:p.Tyr845Asn
ENST00000560628.1:n.108+2002T>A
NM_000527.4:c.2533T>A , LRG_274t1:c.2533T>A NP_000518.1:p.Tyr845Asn
NM_001195798.1:c.2533T>A NP_001182727.1:p.Tyr845Asn
NM_001195799.1:c.2410T>A NP_001182728.1:p.Tyr804Asn
NM_001195800.1:c.2029T>A NP_001182729.1:p.Tyr677Asn
NM_001195803.1:c.1999T>A NP_001182732.1:p.Tyr667Asn
XM_011528010.1:c.2455T>A XP_011526312.1:p.Tyr819Asn
XM_011528011.1:c.2152T>A XP_011526313.1:p.Tyr718Asn
XM_011528010.2:c.2455T>A XP_011526312.1:p.Tyr819Asn
XR_001753685.2:n.2867T>A
XR_001753686.2:n.2510T>A
NM_000527.5:c.2533T>A MANE Select NP_000518.1:p.Tyr845Asn
NM_001195798.2:c.2533T>A NP_001182727.1:p.Tyr845Asn
NM_001195799.2:c.2410T>A NP_001182728.1:p.Tyr804Asn
NM_001195800.2:c.2029T>A NP_001182729.1:p.Tyr677Asn
NM_001195803.2:c.1999T>A NP_001182732.1:p.Tyr667Asn
Search 100 bp 5'
Search 100 bp 3'