Canonical Allele Identifier: CA031985
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs567564778
ExAC: 19:11222212 C / G
gnomAD v2: 19-11222212-C-G
MyVariant Identifiers: chr19:g.11222212C>G (hg19) chr19:g.11111536C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111536C>G , CM000681.2:g.11111536C>G GRCh38
NC_000019.9:g.11222212C>G , CM000681.1:g.11222212C>G GRCh37
NC_000019.8:g.11083212C>G NCBI36
NG_009060.1:g.27156C>G , LRG_274:g.27156C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1341C>G ENSP00000252444.6:p.Pro447=
ENST00000559340.2:c.1083C>G ENSP00000453696.2:p.Pro361=
ENST00000560467.2:c.963C>G ENSP00000453513.2:p.Pro321=
ENST00000558518.6:c.1083C>G MANE Select ENSP00000454071.1:p.Pro361=
ENST00000252444.9:c.1337C>G
ENST00000455727.6:c.579C>G ENSP00000397829.2:p.Pro193=
ENST00000535915.5:c.960C>G ENSP00000440520.1:p.Pro320=
ENST00000545707.5:c.702C>G ENSP00000437639.1:p.Pro234=
ENST00000557933.5:c.1083C>G ENSP00000453557.1:p.Pro361=
ENST00000558013.5:c.1083C>G ENSP00000453346.1:p.Pro361=
ENST00000558518.5:c.1083C>G ENSP00000454071.1:p.Pro361=
ENST00000560173.1:n.82C>G
ENST00000560467.1:c.563C>G
NM_000527.4:c.1083C>G , LRG_274t1:c.1083C>G NP_000518.1:p.Pro361=
NM_001195798.1:c.1083C>G NP_001182727.1:p.Pro361=
NM_001195799.1:c.960C>G NP_001182728.1:p.Pro320=
NM_001195800.1:c.579C>G NP_001182729.1:p.Pro193=
NM_001195803.1:c.702C>G NP_001182732.1:p.Pro234=
XM_011528010.1:c.1083C>G XP_011526312.1:p.Pro361=
XM_011528011.1:c.702C>G XP_011526313.1:p.Pro234=
XR_244074.2:n.1233C>G
XM_011528010.2:c.1083C>G XP_011526312.1:p.Pro361=
XR_001753685.2:n.1200C>G
XR_001753686.2:n.1200C>G
NM_000527.5:c.1083C>G MANE Select NP_000518.1:p.Pro361=
NM_001195798.2:c.1083C>G NP_001182727.1:p.Pro361=
NM_001195799.2:c.960C>G NP_001182728.1:p.Pro320=
NM_001195800.2:c.579C>G NP_001182729.1:p.Pro193=
NM_001195803.2:c.702C>G NP_001182732.1:p.Pro234=
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