Canonical Allele Identifier: CA404093912
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1934950
ClinVar RCV Id: RCV002622849
gnomAD v4: 19-11120477-C-T
MyVariant Identifiers: chr19:g.11231153C>T (hg19) chr19:g.11120477C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120477C>T , CM000681.2:g.11120477C>T GRCh38
NC_000019.9:g.11231153C>T , CM000681.1:g.11231153C>T GRCh37
NC_000019.8:g.11092153C>T NCBI36
NG_009060.1:g.36097C>T , LRG_274:g.36097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2353C>T ENSP00000252444.6:p.Pro785Ser
ENST00000559340.2:c.*164C>T ENSP00000453696.2:n.*164C>T
ENST00000560467.2:c.1975C>T ENSP00000453513.2:p.Pro659Ser
ENST00000558518.6:c.2095C>T MANE Select ENSP00000454071.1:p.Pro699Ser
ENST00000252444.9:c.2349C>T
ENST00000455727.6:c.1591C>T ENSP00000397829.2:p.Pro531Ser
ENST00000535915.5:c.1972C>T ENSP00000440520.1:p.Pro658Ser
ENST00000545707.5:c.1606+244C>T ENSP00000437639.1:n.1606+244C>T
ENST00000557933.5:c.2095C>T ENSP00000453557.1:p.Pro699Ser
ENST00000558013.5:c.2095C>T ENSP00000453346.1:p.Pro699Ser
ENST00000558518.5:c.2095C>T ENSP00000454071.1:p.Pro699Ser
NM_000527.4:c.2095C>T , LRG_274t1:c.2095C>T NP_000518.1:p.Pro699Ser
NM_001195798.1:c.2095C>T NP_001182727.1:p.Pro699Ser
NM_001195799.1:c.1972C>T NP_001182728.1:p.Pro658Ser
NM_001195800.1:c.1591C>T NP_001182729.1:p.Pro531Ser
NM_001195803.1:c.1606+244C>T NP_001182732.1:n.1606+244C>T
XM_011528010.1:c.2095C>T XP_011526312.1:p.Pro699Ser
XM_011528011.1:c.1714C>T XP_011526313.1:p.Pro572Ser
XR_244074.2:n.2105C>T
XM_011528010.2:c.2095C>T XP_011526312.1:p.Pro699Ser
XR_001753685.2:n.2212C>T
XR_001753686.2:n.2072C>T
NM_000527.5:c.2095C>T MANE Select NP_000518.1:p.Pro699Ser
NM_001195798.2:c.2095C>T NP_001182727.1:p.Pro699Ser
NM_001195799.2:c.1972C>T NP_001182728.1:p.Pro658Ser
NM_001195800.2:c.1591C>T NP_001182729.1:p.Pro531Ser
NM_001195803.2:c.1606+244C>T NP_001182732.1:n.1606+244C>T
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