Canonical Allele Identifier: CA040949

Gene: LDLR

Linked Data

• ClinVar Variation Id: 990078
• ClinVar RCV Id: RCV001278020 ; RCV002451635
• dbSNP Id: rs374635484
• ExAC: 19:11240328 C / T
• gnomAD v2: 19-11240328-C-T
• gnomAD v3: 19-11129652-C-T
• gnomAD v4: 19-11129652-C-T
• MyVariant Identifiers: chr19:g.11240328C>T (hg19) ; chr19:g.11129652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129652C>T , CM000681.2:g.11129652C>T	GRCh38
NC_000019.9:g.11240328C>T , CM000681.1:g.11240328C>T	GRCh37
NC_000019.8:g.11101328C>T	NCBI36
NG_009060.1:g.45272C>T , LRG_274:g.45272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2787C>T	ENSP00000252444.6:p.Asp929=
ENST00000559340.2:c.*598C>T	ENSP00000453696.2:n.*598C>T
ENST00000560467.2:c.2409C>T	ENSP00000453513.2:p.Asp803=
ENST00000558518.6:c.2529C>T MANE Select	ENSP00000454071.1:p.Asp843=
ENST00000252444.9:c.2783C>T
ENST00000455727.6:c.2025C>T	ENSP00000397829.2:p.Asp675=
ENST00000535915.5:c.2406C>T	ENSP00000440520.1:p.Asp802=
ENST00000545707.5:c.1995C>T	ENSP00000437639.1:p.Asp665=
ENST00000557933.5:c.2591C>T	ENSP00000453557.1:p.Thr864Met
ENST00000558013.5:c.2529C>T	ENSP00000453346.1:p.Asp843=
ENST00000558518.5:c.2529C>T	ENSP00000454071.1:p.Asp843=
ENST00000560628.1:n.108+1998C>T
NM_000527.4:c.2529C>T , LRG_274t1:c.2529C>T	NP_000518.1:p.Asp843=
NM_001195798.1:c.2529C>T	NP_001182727.1:p.Asp843=
NM_001195799.1:c.2406C>T	NP_001182728.1:p.Asp802=
NM_001195800.1:c.2025C>T	NP_001182729.1:p.Asp675=
NM_001195803.1:c.1995C>T	NP_001182732.1:p.Asp665=
XM_011528010.1:c.2451C>T	XP_011526312.1:p.Asp817=
XM_011528011.1:c.2148C>T	XP_011526313.1:p.Asp716=
XM_011528010.2:c.2451C>T	XP_011526312.1:p.Asp817=
XR_001753685.2:n.2863C>T
XR_001753686.2:n.2506C>T
NM_000527.5:c.2529C>T MANE Select	NP_000518.1:p.Asp843=
NM_001195798.2:c.2529C>T	NP_001182727.1:p.Asp843=
NM_001195799.2:c.2406C>T	NP_001182728.1:p.Asp802=
NM_001195800.2:c.2025C>T	NP_001182729.1:p.Asp675=
NM_001195803.2:c.1995C>T	NP_001182732.1:p.Asp665=