Canonical Allele Identifier: CA632115481

Gene: LDLR

Linked Data

• dbSNP Id: rs1568614352
• gnomAD v2: 19-11233829-G-GT
• gnomAD v4: 19-11123153-G-GT
• MyVariant Identifiers: chr19:g.11233829_11233830insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123153_11123154insT , CM000681.2:g.11123153_11123154insT	GRCh38
NC_000019.9:g.11233829_11233830insT , CM000681.1:g.11233829_11233830insT	GRCh37
NC_000019.8:g.11094829_11094830insT	NCBI36
NG_009060.1:g.38773_38774insT , LRG_274:g.38773_38774insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2399-21_2399-20insT	ENSP00000252444.6:n.2399-21_2399-20insT
ENST00000559340.2:c.*210-21_*210-20insT	ENSP00000453696.2:n.*210-21_*210-20insT
ENST00000560467.2:c.2021-21_2021-20insT	ENSP00000453513.2:n.2021-21_2021-20insT
ENST00000558518.6:c.2141-21_2141-20insT MANE Select	ENSP00000454071.1:n.2141-21_2141-20insT
ENST00000252444.9:c.2395-21_2395-20insT
ENST00000455727.6:c.1637-21_1637-20insT	ENSP00000397829.2:n.1637-21_1637-20insT
ENST00000535915.5:c.2018-21_2018-20insT	ENSP00000440520.1:n.2018-21_2018-20insT
ENST00000545707.5:c.1607-21_1607-20insT	ENSP00000437639.1:n.1607-21_1607-20insT
ENST00000557933.5:c.2141-21_2141-20insT	ENSP00000453557.1:n.2141-21_2141-20insT
ENST00000558013.5:c.2141-21_2141-20insT	ENSP00000453346.1:n.2141-21_2141-20insT
ENST00000558518.5:c.2141-21_2141-20insT	ENSP00000454071.1:n.2141-21_2141-20insT
NM_000527.4:c.2141-21_2141-20insT , LRG_274t1:c.2141-21_2141-20insT	NP_000518.1:n.2141-21_2141-20insT
NM_001195798.1:c.2141-21_2141-20insT	NP_001182727.1:n.2141-21_2141-20insT
NM_001195799.1:c.2018-21_2018-20insT	NP_001182728.1:n.2018-21_2018-20insT
NM_001195800.1:c.1637-21_1637-20insT	NP_001182729.1:n.1637-21_1637-20insT
NM_001195803.1:c.1607-21_1607-20insT	NP_001182732.1:n.1607-21_1607-20insT
XM_011528010.1:c.2141-21_2141-20insT	XP_011526312.1:n.2141-21_2141-20insT
XM_011528011.1:c.1760-21_1760-20insT	XP_011526313.1:n.1760-21_1760-20insT
XR_244074.2:n.2151-21_2151-20insT
XM_011528010.2:c.2141-21_2141-20insT	XP_011526312.1:n.2141-21_2141-20insT
XR_001753685.2:n.2475-21_2475-20insT
XR_001753686.2:n.2118-21_2118-20insT
NM_000527.5:c.2141-21_2141-20insT MANE Select	NP_000518.1:n.2141-21_2141-20insT
NM_001195798.2:c.2141-21_2141-20insT	NP_001182727.1:n.2141-21_2141-20insT
NM_001195799.2:c.2018-21_2018-20insT	NP_001182728.1:n.2018-21_2018-20insT
NM_001195800.2:c.1637-21_1637-20insT	NP_001182729.1:n.1637-21_1637-20insT
NM_001195803.2:c.1607-21_1607-20insT	NP_001182732.1:n.1607-21_1607-20insT