Canonical Allele Identifier: CA783248097

Gene: LDLR

Linked Data

• dbSNP Id: rs1297234864
• gnomAD v3: 19-11120324-A-G
• gnomAD v4: 19-11120324-A-G
• MyVariant Identifiers: chr19:g.11231000A>G (hg19) ; chr19:g.11120324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120324A>G , CM000681.2:g.11120324A>G	GRCh38
NC_000019.9:g.11231000A>G , CM000681.1:g.11231000A>G	GRCh37
NC_000019.8:g.11092000A>G	NCBI36
NG_009060.1:g.35944A>G , LRG_274:g.35944A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2246-46A>G	ENSP00000252444.6:n.2246-46A>G
ENST00000559340.2:c.*57-46A>G	ENSP00000453696.2:n.*57-46A>G
ENST00000560467.2:c.1868-46A>G	ENSP00000453513.2:n.1868-46A>G
ENST00000558518.6:c.1988-46A>G MANE Select	ENSP00000454071.1:n.1988-46A>G
ENST00000252444.9:c.2242-46A>G
ENST00000455727.6:c.1484-46A>G	ENSP00000397829.2:n.1484-46A>G
ENST00000535915.5:c.1865-46A>G	ENSP00000440520.1:n.1865-46A>G
ENST00000545707.5:c.1606+91A>G	ENSP00000437639.1:n.1606+91A>G
ENST00000557933.5:c.1988-46A>G	ENSP00000453557.1:n.1988-46A>G
ENST00000558013.5:c.1988-46A>G	ENSP00000453346.1:n.1988-46A>G
ENST00000558518.5:c.1988-46A>G	ENSP00000454071.1:n.1988-46A>G
ENST00000559340.1:c.569-46A>G
NM_000527.4:c.1988-46A>G , LRG_274t1:c.1988-46A>G	NP_000518.1:n.1988-46A>G
NM_001195798.1:c.1988-46A>G	NP_001182727.1:n.1988-46A>G
NM_001195799.1:c.1865-46A>G	NP_001182728.1:n.1865-46A>G
NM_001195800.1:c.1484-46A>G	NP_001182729.1:n.1484-46A>G
NM_001195803.1:c.1606+91A>G	NP_001182732.1:n.1606+91A>G
XM_011528010.1:c.1988-46A>G	XP_011526312.1:n.1988-46A>G
XM_011528011.1:c.1607-46A>G	XP_011526313.1:n.1607-46A>G
XR_244074.2:n.1998-46A>G
XM_011528010.2:c.1988-46A>G	XP_011526312.1:n.1988-46A>G
XR_001753685.2:n.2105-46A>G
XR_001753686.2:n.1965-46A>G
NM_000527.5:c.1988-46A>G MANE Select	NP_000518.1:n.1988-46A>G
NM_001195798.2:c.1988-46A>G	NP_001182727.1:n.1988-46A>G
NM_001195799.2:c.1865-46A>G	NP_001182728.1:n.1865-46A>G
NM_001195800.2:c.1484-46A>G	NP_001182729.1:n.1484-46A>G
NM_001195803.2:c.1606+91A>G	NP_001182732.1:n.1606+91A>G