Canonical Allele Identifier: CA029703

Gene: LDLR

Linked Data

• dbSNP Id: rs763383550
• ExAC: 19:11218017 T / A
• gnomAD v2: 19-11218017-T-A
• MyVariant Identifiers: chr19:g.11218017T>A (hg19) ; chr19:g.11107341T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107341T>A , CM000681.2:g.11107341T>A	GRCh38
NC_000019.9:g.11218017T>A , CM000681.1:g.11218017T>A	GRCh37
NC_000019.8:g.11079017T>A	NCBI36
NG_009060.1:g.22961T>A , LRG_274:g.22961T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1076-51T>A	ENSP00000252444.6:n.1076-51T>A
ENST00000559340.2:c.818-51T>A	ENSP00000453696.2:n.818-51T>A
ENST00000560467.2:c.818-51T>A	ENSP00000453513.2:n.818-51T>A
ENST00000558518.6:c.818-51T>A MANE Select	ENSP00000454071.1:n.818-51T>A
ENST00000252444.9:c.1072-51T>A
ENST00000455727.6:c.314-51T>A	ENSP00000397829.2:n.314-51T>A
ENST00000535915.5:c.695-51T>A	ENSP00000440520.1:n.695-51T>A
ENST00000545707.5:c.437-51T>A	ENSP00000437639.1:n.437-51T>A
ENST00000557933.5:c.818-51T>A	ENSP00000453557.1:n.818-51T>A
ENST00000558013.5:c.818-51T>A	ENSP00000453346.1:n.818-51T>A
ENST00000558518.5:c.818-51T>A	ENSP00000454071.1:n.818-51T>A
ENST00000558528.1:n.333-51T>A
ENST00000560467.1:c.418-51T>A
NM_000527.4:c.818-51T>A , LRG_274t1:c.818-51T>A	NP_000518.1:n.818-51T>A
NM_001195798.1:c.818-51T>A	NP_001182727.1:n.818-51T>A
NM_001195799.1:c.695-51T>A	NP_001182728.1:n.695-51T>A
NM_001195800.1:c.314-51T>A	NP_001182729.1:n.314-51T>A
NM_001195803.1:c.437-51T>A	NP_001182732.1:n.437-51T>A
XM_011528010.1:c.818-51T>A	XP_011526312.1:n.818-51T>A
XM_011528011.1:c.437-51T>A	XP_011526313.1:n.437-51T>A
XR_244074.2:n.968-51T>A
XM_011528010.2:c.818-51T>A	XP_011526312.1:n.818-51T>A
XR_001753685.2:n.935-51T>A
XR_001753686.2:n.935-51T>A
NM_000527.5:c.818-51T>A MANE Select	NP_000518.1:n.818-51T>A
NM_001195798.2:c.818-51T>A	NP_001182727.1:n.818-51T>A
NM_001195799.2:c.695-51T>A	NP_001182728.1:n.695-51T>A
NM_001195800.2:c.314-51T>A	NP_001182729.1:n.314-51T>A
NM_001195803.2:c.437-51T>A	NP_001182732.1:n.437-51T>A