Canonical Allele Identifier: CA404083480
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11222244A>G (hg19) chr19:g.11111568A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111568A>G , CM000681.2:g.11111568A>G GRCh38
NC_000019.9:g.11222244A>G , CM000681.1:g.11222244A>G GRCh37
NC_000019.8:g.11083244A>G NCBI36
NG_009060.1:g.27188A>G , LRG_274:g.27188A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1373A>G ENSP00000252444.6:p.Glu458Gly
ENST00000559340.2:c.1115A>G ENSP00000453696.2:p.Glu372Gly
ENST00000560467.2:c.995A>G ENSP00000453513.2:p.Glu332Gly
ENST00000558518.6:c.1115A>G MANE Select ENSP00000454071.1:p.Glu372Gly
ENST00000252444.9:c.1369A>G
ENST00000455727.6:c.611A>G ENSP00000397829.2:p.Glu204Gly
ENST00000535915.5:c.992A>G ENSP00000440520.1:p.Glu331Gly
ENST00000545707.5:c.734A>G ENSP00000437639.1:p.Glu245Gly
ENST00000557933.5:c.1115A>G ENSP00000453557.1:p.Glu372Gly
ENST00000558013.5:c.1115A>G ENSP00000453346.1:p.Glu372Gly
ENST00000558518.5:c.1115A>G ENSP00000454071.1:p.Glu372Gly
ENST00000560173.1:n.114A>G
ENST00000560467.1:c.595A>G
NM_000527.4:c.1115A>G , LRG_274t1:c.1115A>G NP_000518.1:p.Glu372Gly
NM_001195798.1:c.1115A>G NP_001182727.1:p.Glu372Gly
NM_001195799.1:c.992A>G NP_001182728.1:p.Glu331Gly
NM_001195800.1:c.611A>G NP_001182729.1:p.Glu204Gly
NM_001195803.1:c.734A>G NP_001182732.1:p.Glu245Gly
XM_011528010.1:c.1115A>G XP_011526312.1:p.Glu372Gly
XM_011528011.1:c.734A>G XP_011526313.1:p.Glu245Gly
XR_244074.2:n.1265A>G
XM_011528010.2:c.1115A>G XP_011526312.1:p.Glu372Gly
XR_001753685.2:n.1232A>G
XR_001753686.2:n.1232A>G
NM_000527.5:c.1115A>G MANE Select NP_000518.1:p.Glu372Gly
NM_001195798.2:c.1115A>G NP_001182727.1:p.Glu372Gly
NM_001195799.2:c.992A>G NP_001182728.1:p.Glu331Gly
NM_001195800.2:c.611A>G NP_001182729.1:p.Glu204Gly
NM_001195803.2:c.734A>G NP_001182732.1:p.Glu245Gly
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