Canonical Allele Identifier: CA404076306

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1500739
• ClinVar RCV Id: RCV002015882
• dbSNP Id: rs2077268470
• MyVariant Identifiers: chr19:g.11215950C>G (hg19) ; chr19:g.11105274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105274C>G , CM000681.2:g.11105274C>G	GRCh38
NC_000019.9:g.11215950C>G , CM000681.1:g.11215950C>G	GRCh37
NC_000019.8:g.11076950C>G	NCBI36
NG_009060.1:g.20894C>G , LRG_274:g.20894C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.626C>G	ENSP00000252444.6:p.Ser209Cys
ENST00000559340.2:c.368C>G	ENSP00000453696.2:p.Ser123Cys
ENST00000560467.2:c.368C>G	ENSP00000453513.2:p.Ser123Cys
ENST00000558518.6:c.368C>G MANE Select	ENSP00000454071.1:p.Ser123Cys
ENST00000252444.9:c.622C>G
ENST00000455727.6:c.314-2118C>G	ENSP00000397829.2:n.314-2118C>G
ENST00000535915.5:c.245C>G	ENSP00000440520.1:p.Ser82Cys
ENST00000545707.5:c.314-1291C>G	ENSP00000437639.1:n.314-1291C>G
ENST00000557933.5:c.368C>G	ENSP00000453557.1:p.Ser123Cys
ENST00000558013.5:c.368C>G	ENSP00000453346.1:p.Ser123Cys
ENST00000558518.5:c.368C>G	ENSP00000454071.1:p.Ser123Cys
NM_000527.4:c.368C>G , LRG_274t1:c.368C>G	NP_000518.1:p.Ser123Cys
NM_001195798.1:c.368C>G	NP_001182727.1:p.Ser123Cys
NM_001195799.1:c.245C>G	NP_001182728.1:p.Ser82Cys
NM_001195800.1:c.314-2118C>G	NP_001182729.1:n.314-2118C>G
NM_001195803.1:c.314-1291C>G	NP_001182732.1:n.314-1291C>G
XM_011528010.1:c.368C>G	XP_011526312.1:p.Ser123Cys
XM_011528011.1:c.314-1291C>G	XP_011526313.1:n.314-1291C>G
XR_244074.2:n.518C>G
XM_011528010.2:c.368C>G	XP_011526312.1:p.Ser123Cys
XR_001753685.2:n.485C>G
XR_001753686.2:n.485C>G
NM_000527.5:c.368C>G MANE Select	NP_000518.1:p.Ser123Cys
NM_001195798.2:c.368C>G	NP_001182727.1:p.Ser123Cys
NM_001195799.2:c.245C>G	NP_001182728.1:p.Ser82Cys
NM_001195800.2:c.314-2118C>G	NP_001182729.1:n.314-2118C>G
NM_001195803.2:c.314-1291C>G	NP_001182732.1:n.314-1291C>G