Canonical Allele Identifier: CA404083668

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1163620
• ClinVar RCV Id: RCV001508839
• dbSNP Id: rs2147241680
• MyVariant Identifiers: chr19:g.11222266T>A (hg19) ; chr19:g.11111590T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111590T>A , CM000681.2:g.11111590T>A	GRCh38
NC_000019.9:g.11222266T>A , CM000681.1:g.11222266T>A	GRCh37
NC_000019.8:g.11083266T>A	NCBI36
NG_009060.1:g.27210T>A , LRG_274:g.27210T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1395T>A	ENSP00000252444.6:p.Cys465Ter
ENST00000559340.2:c.1137T>A	ENSP00000453696.2:p.Cys379Ter
ENST00000560467.2:c.1017T>A	ENSP00000453513.2:p.Cys339Ter
ENST00000558518.6:c.1137T>A MANE Select	ENSP00000454071.1:p.Cys379Ter
ENST00000252444.9:c.1391T>A
ENST00000455727.6:c.633T>A	ENSP00000397829.2:p.Cys211Ter
ENST00000535915.5:c.1014T>A	ENSP00000440520.1:p.Cys338Ter
ENST00000545707.5:c.756T>A	ENSP00000437639.1:p.Cys252Ter
ENST00000557933.5:c.1137T>A	ENSP00000453557.1:p.Cys379Ter
ENST00000558013.5:c.1137T>A	ENSP00000453346.1:p.Cys379Ter
ENST00000558518.5:c.1137T>A	ENSP00000454071.1:p.Cys379Ter
ENST00000560173.1:n.136T>A
ENST00000560467.1:c.617T>A
NM_000527.4:c.1137T>A , LRG_274t1:c.1137T>A	NP_000518.1:p.Cys379Ter
NM_001195798.1:c.1137T>A	NP_001182727.1:p.Cys379Ter
NM_001195799.1:c.1014T>A	NP_001182728.1:p.Cys338Ter
NM_001195800.1:c.633T>A	NP_001182729.1:p.Cys211Ter
NM_001195803.1:c.756T>A	NP_001182732.1:p.Cys252Ter
XM_011528010.1:c.1137T>A	XP_011526312.1:p.Cys379Ter
XM_011528011.1:c.756T>A	XP_011526313.1:p.Cys252Ter
XR_244074.2:n.1287T>A
XM_011528010.2:c.1137T>A	XP_011526312.1:p.Cys379Ter
XR_001753685.2:n.1254T>A
XR_001753686.2:n.1254T>A
NM_000527.5:c.1137T>A MANE Select	NP_000518.1:p.Cys379Ter
NM_001195798.2:c.1137T>A	NP_001182727.1:p.Cys379Ter
NM_001195799.2:c.1014T>A	NP_001182728.1:p.Cys338Ter
NM_001195800.2:c.633T>A	NP_001182729.1:p.Cys211Ter
NM_001195803.2:c.756T>A	NP_001182732.1:p.Cys252Ter