Canonical Allele Identifier: CA404083967

Gene: LDLR

Linked Data

• ClinVar Variation Id: 961072
• ClinVar RCV Id: RCV001234707
• dbSNP Id: rs879254816
• MyVariant Identifiers: chr19:g.11222308G>T (hg19) ; chr19:g.11111632G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111632G>T , CM000681.2:g.11111632G>T	GRCh38
NC_000019.9:g.11222308G>T , CM000681.1:g.11222308G>T	GRCh37
NC_000019.8:g.11083308G>T	NCBI36
NG_009060.1:g.27252G>T , LRG_274:g.27252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1437G>T	ENSP00000252444.6:p.Lys479Asn
ENST00000559340.2:c.1179G>T	ENSP00000453696.2:p.Lys393Asn
ENST00000560467.2:c.1059G>T	ENSP00000453513.2:p.Lys353Asn
ENST00000558518.6:c.1179G>T MANE Select	ENSP00000454071.1:p.Lys393Asn
ENST00000252444.9:c.1433G>T
ENST00000455727.6:c.675G>T	ENSP00000397829.2:p.Lys225Asn
ENST00000535915.5:c.1056G>T	ENSP00000440520.1:p.Lys352Asn
ENST00000545707.5:c.798G>T	ENSP00000437639.1:p.Lys266Asn
ENST00000557933.5:c.1179G>T	ENSP00000453557.1:p.Lys393Asn
ENST00000558013.5:c.1179G>T	ENSP00000453346.1:p.Lys393Asn
ENST00000558518.5:c.1179G>T	ENSP00000454071.1:p.Lys393Asn
ENST00000560173.1:n.178G>T
ENST00000560467.1:c.659G>T
NM_000527.4:c.1179G>T , LRG_274t1:c.1179G>T	NP_000518.1:p.Lys393Asn
NM_001195798.1:c.1179G>T	NP_001182727.1:p.Lys393Asn
NM_001195799.1:c.1056G>T	NP_001182728.1:p.Lys352Asn
NM_001195800.1:c.675G>T	NP_001182729.1:p.Lys225Asn
NM_001195803.1:c.798G>T	NP_001182732.1:p.Lys266Asn
XM_011528010.1:c.1179G>T	XP_011526312.1:p.Lys393Asn
XM_011528011.1:c.798G>T	XP_011526313.1:p.Lys266Asn
XR_244074.2:n.1329G>T
XM_011528010.2:c.1179G>T	XP_011526312.1:p.Lys393Asn
XR_001753685.2:n.1296G>T
XR_001753686.2:n.1296G>T
NM_000527.5:c.1179G>T MANE Select	NP_000518.1:p.Lys393Asn
NM_001195798.2:c.1179G>T	NP_001182727.1:p.Lys393Asn
NM_001195799.2:c.1056G>T	NP_001182728.1:p.Lys352Asn
NM_001195800.2:c.675G>T	NP_001182729.1:p.Lys225Asn
NM_001195803.2:c.798G>T	NP_001182732.1:p.Lys266Asn