Canonical Allele Identifier: CA038255

Gene: LDLR

Linked Data

• ClinVar Variation Id: 922162
• ClinVar RCV Id: RCV001182068 ; RCV004008270
• dbSNP Id: rs760436036
• ExAC: 19:11231095 T / C
• gnomAD v2: 19-11231095-T-C
• gnomAD v4: 19-11120419-T-C
• MyVariant Identifiers: chr19:g.11231095T>C (hg19) ; chr19:g.11120419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120419T>C , CM000681.2:g.11120419T>C	GRCh38
NC_000019.9:g.11231095T>C , CM000681.1:g.11231095T>C	GRCh37
NC_000019.8:g.11092095T>C	NCBI36
NG_009060.1:g.36039T>C , LRG_274:g.36039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2295T>C	ENSP00000252444.6:p.Tyr765=
ENST00000559340.2:c.*106T>C	ENSP00000453696.2:n.*106T>C
ENST00000560467.2:c.1917T>C	ENSP00000453513.2:p.Tyr639=
ENST00000558518.6:c.2037T>C MANE Select	ENSP00000454071.1:p.Tyr679=
ENST00000252444.9:c.2291T>C
ENST00000455727.6:c.1533T>C	ENSP00000397829.2:p.Tyr511=
ENST00000535915.5:c.1914T>C	ENSP00000440520.1:p.Tyr638=
ENST00000545707.5:c.1606+186T>C	ENSP00000437639.1:n.1606+186T>C
ENST00000557933.5:c.2037T>C	ENSP00000453557.1:p.Tyr679=
ENST00000558013.5:c.2037T>C	ENSP00000453346.1:p.Tyr679=
ENST00000558518.5:c.2037T>C	ENSP00000454071.1:p.Tyr679=
NM_000527.4:c.2037T>C , LRG_274t1:c.2037T>C	NP_000518.1:p.Tyr679=
NM_001195798.1:c.2037T>C	NP_001182727.1:p.Tyr679=
NM_001195799.1:c.1914T>C	NP_001182728.1:p.Tyr638=
NM_001195800.1:c.1533T>C	NP_001182729.1:p.Tyr511=
NM_001195803.1:c.1606+186T>C	NP_001182732.1:n.1606+186T>C
XM_011528010.1:c.2037T>C	XP_011526312.1:p.Tyr679=
XM_011528011.1:c.1656T>C	XP_011526313.1:p.Tyr552=
XR_244074.2:n.2047T>C
XM_011528010.2:c.2037T>C	XP_011526312.1:p.Tyr679=
XR_001753685.2:n.2154T>C
XR_001753686.2:n.2014T>C
NM_000527.5:c.2037T>C MANE Select	NP_000518.1:p.Tyr679=
NM_001195798.2:c.2037T>C	NP_001182727.1:p.Tyr679=
NM_001195799.2:c.1914T>C	NP_001182728.1:p.Tyr638=
NM_001195800.2:c.1533T>C	NP_001182729.1:p.Tyr511=
NM_001195803.2:c.1606+186T>C	NP_001182732.1:n.1606+186T>C