Canonical Allele Identifier: CA505742133
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11215903G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105227G>A , CM000681.2:g.11105227G>A GRCh38
NC_000019.9:g.11215903G>A , CM000681.1:g.11215903G>A GRCh37
NC_000019.8:g.11076903G>A NCBI36
NG_009060.1:g.20847G>A , LRG_274:g.20847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.579G>A ENSP00000252444.6:p.Lys193=
ENST00000559340.2:c.321G>A ENSP00000453696.2:p.Lys107=
ENST00000560467.2:c.321G>A ENSP00000453513.2:p.Lys107=
ENST00000558518.6:c.321G>A MANE Select ENSP00000454071.1:p.Lys107=
ENST00000252444.9:c.575G>A
ENST00000455727.6:c.314-2165G>A ENSP00000397829.2:n.314-2165G>A
ENST00000535915.5:c.198G>A ENSP00000440520.1:p.Lys66=
ENST00000545707.5:c.314-1338G>A ENSP00000437639.1:n.314-1338G>A
ENST00000557933.5:c.321G>A ENSP00000453557.1:p.Lys107=
ENST00000558013.5:c.321G>A ENSP00000453346.1:p.Lys107=
ENST00000558518.5:c.321G>A ENSP00000454071.1:p.Lys107=
NM_000527.4:c.321G>A , LRG_274t1:c.321G>A NP_000518.1:p.Lys107=
NM_001195798.1:c.321G>A NP_001182727.1:p.Lys107=
NM_001195799.1:c.198G>A NP_001182728.1:p.Lys66=
NM_001195800.1:c.314-2165G>A NP_001182729.1:n.314-2165G>A
NM_001195803.1:c.314-1338G>A NP_001182732.1:n.314-1338G>A
XM_011528010.1:c.321G>A XP_011526312.1:p.Lys107=
XM_011528011.1:c.314-1338G>A XP_011526313.1:n.314-1338G>A
XR_244074.2:n.471G>A
XM_011528010.2:c.321G>A XP_011526312.1:p.Lys107=
XR_001753685.2:n.438G>A
XR_001753686.2:n.438G>A
NM_000527.5:c.321G>A MANE Select NP_000518.1:p.Lys107=
NM_001195798.2:c.321G>A NP_001182727.1:p.Lys107=
NM_001195799.2:c.198G>A NP_001182728.1:p.Lys66=
NM_001195800.2:c.314-2165G>A NP_001182729.1:n.314-2165G>A
NM_001195803.2:c.314-1338G>A NP_001182732.1:n.314-1338G>A