Canonical Allele Identifier: CA505742196
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11215972A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105296A>T , CM000681.2:g.11105296A>T GRCh38
NC_000019.9:g.11215972A>T , CM000681.1:g.11215972A>T GRCh37
NC_000019.8:g.11076972A>T NCBI36
NG_009060.1:g.20916A>T , LRG_274:g.20916A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.648A>T ENSP00000252444.6:p.Ser216=
ENST00000559340.2:c.390A>T ENSP00000453696.2:p.Ser130=
ENST00000560467.2:c.390A>T ENSP00000453513.2:p.Ser130=
ENST00000558518.6:c.390A>T MANE Select ENSP00000454071.1:p.Ser130=
ENST00000252444.9:c.644A>T
ENST00000455727.6:c.314-2096A>T ENSP00000397829.2:n.314-2096A>T
ENST00000535915.5:c.267A>T ENSP00000440520.1:p.Ser89=
ENST00000545707.5:c.314-1269A>T ENSP00000437639.1:n.314-1269A>T
ENST00000557933.5:c.390A>T ENSP00000453557.1:p.Ser130=
ENST00000558013.5:c.390A>T ENSP00000453346.1:p.Ser130=
ENST00000558518.5:c.390A>T ENSP00000454071.1:p.Ser130=
NM_000527.4:c.390A>T , LRG_274t1:c.390A>T NP_000518.1:p.Ser130=
NM_001195798.1:c.390A>T NP_001182727.1:p.Ser130=
NM_001195799.1:c.267A>T NP_001182728.1:p.Ser89=
NM_001195800.1:c.314-2096A>T NP_001182729.1:n.314-2096A>T
NM_001195803.1:c.314-1269A>T NP_001182732.1:n.314-1269A>T
XM_011528010.1:c.390A>T XP_011526312.1:p.Ser130=
XM_011528011.1:c.314-1269A>T XP_011526313.1:n.314-1269A>T
XR_244074.2:n.540A>T
XM_011528010.2:c.390A>T XP_011526312.1:p.Ser130=
XR_001753685.2:n.507A>T
XR_001753686.2:n.507A>T
NM_000527.5:c.390A>T MANE Select NP_000518.1:p.Ser130=
NM_001195798.2:c.390A>T NP_001182727.1:p.Ser130=
NM_001195799.2:c.267A>T NP_001182728.1:p.Ser89=
NM_001195800.2:c.314-2096A>T NP_001182729.1:n.314-2096A>T
NM_001195803.2:c.314-1269A>T NP_001182732.1:n.314-1269A>T