Canonical Allele Identifier: CA037416

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1302495
• ClinVar RCV Id: RCV001754384
• dbSNP Id: rs779622257
• ExAC: 19:11230840 A / T
• gnomAD v2: 19-11230840-A-T
• gnomAD v3: 19-11120164-A-T
• gnomAD v4: 19-11120164-A-T
• MyVariant Identifiers: chr19:g.11230840A>T (hg19) ; chr19:g.11120164A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120164A>T , CM000681.2:g.11120164A>T	GRCh38
NC_000019.9:g.11230840A>T , CM000681.1:g.11230840A>T	GRCh37
NC_000019.8:g.11091840A>T	NCBI36
NG_009060.1:g.35784A>T , LRG_274:g.35784A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2176A>T	ENSP00000252444.6:p.Asn726Tyr
ENST00000559340.2:c.1778A>T	ENSP00000453696.2:p.Gln593Leu
ENST00000560467.2:c.1798A>T	ENSP00000453513.2:p.Asn600Tyr
ENST00000558518.6:c.1918A>T MANE Select	ENSP00000454071.1:p.Asn640Tyr
ENST00000252444.9:c.2172A>T
ENST00000455727.6:c.1414A>T	ENSP00000397829.2:p.Asn472Tyr
ENST00000535915.5:c.1795A>T	ENSP00000440520.1:p.Asn599Tyr
ENST00000545707.5:c.1537A>T	ENSP00000437639.1:p.Asn513Tyr
ENST00000557933.5:c.1918A>T	ENSP00000453557.1:p.Asn640Tyr
ENST00000558013.5:c.1918A>T	ENSP00000453346.1:p.Asn640Tyr
ENST00000558518.5:c.1918A>T	ENSP00000454071.1:p.Asn640Tyr
ENST00000559340.1:c.499A>T
NM_000527.4:c.1918A>T , LRG_274t1:c.1918A>T	NP_000518.1:p.Asn640Tyr
NM_001195798.1:c.1918A>T	NP_001182727.1:p.Asn640Tyr
NM_001195799.1:c.1795A>T	NP_001182728.1:p.Asn599Tyr
NM_001195800.1:c.1414A>T	NP_001182729.1:p.Asn472Tyr
NM_001195803.1:c.1537A>T	NP_001182732.1:p.Asn513Tyr
XM_011528010.1:c.1918A>T	XP_011526312.1:p.Asn640Tyr
XM_011528011.1:c.1537A>T	XP_011526313.1:p.Asn513Tyr
XR_244074.2:n.1928A>T
XM_011528010.2:c.1918A>T	XP_011526312.1:p.Asn640Tyr
XR_001753685.2:n.2035A>T
XR_001753686.2:n.1895A>T
NM_000527.5:c.1918A>T MANE Select	NP_000518.1:p.Asn640Tyr
NM_001195798.2:c.1918A>T	NP_001182727.1:p.Asn640Tyr
NM_001195799.2:c.1795A>T	NP_001182728.1:p.Asn599Tyr
NM_001195800.2:c.1414A>T	NP_001182729.1:p.Asn472Tyr
NM_001195803.2:c.1537A>T	NP_001182732.1:p.Asn513Tyr