Canonical Allele Identifier: CA404093679

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441227
• ClinVar RCV Id: RCV000509393
• dbSNP Id: rs28942084
• MyVariant Identifiers: chr19:g.11231112C>A (hg19) ; chr19:g.11120436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120436C>A , CM000681.2:g.11120436C>A	GRCh38
NC_000019.9:g.11231112C>A , CM000681.1:g.11231112C>A	GRCh37
NC_000019.8:g.11092112C>A	NCBI36
NG_009060.1:g.36056C>A , LRG_274:g.36056C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2312C>A	ENSP00000252444.6:p.Pro771Gln
ENST00000559340.2:c.*123C>A	ENSP00000453696.2:n.*123C>A
ENST00000560467.2:c.1934C>A	ENSP00000453513.2:p.Pro645Gln
ENST00000558518.6:c.2054C>A MANE Select	ENSP00000454071.1:p.Pro685Gln
ENST00000252444.9:c.2308C>A
ENST00000455727.6:c.1550C>A	ENSP00000397829.2:p.Pro517Gln
ENST00000535915.5:c.1931C>A	ENSP00000440520.1:p.Pro644Gln
ENST00000545707.5:c.1606+203C>A	ENSP00000437639.1:n.1606+203C>A
ENST00000557933.5:c.2054C>A	ENSP00000453557.1:p.Pro685Gln
ENST00000558013.5:c.2054C>A	ENSP00000453346.1:p.Pro685Gln
ENST00000558518.5:c.2054C>A	ENSP00000454071.1:p.Pro685Gln
NM_000527.4:c.2054C>A , LRG_274t1:c.2054C>A	NP_000518.1:p.Pro685Gln
NM_001195798.1:c.2054C>A	NP_001182727.1:p.Pro685Gln
NM_001195799.1:c.1931C>A	NP_001182728.1:p.Pro644Gln
NM_001195800.1:c.1550C>A	NP_001182729.1:p.Pro517Gln
NM_001195803.1:c.1606+203C>A	NP_001182732.1:n.1606+203C>A
XM_011528010.1:c.2054C>A	XP_011526312.1:p.Pro685Gln
XM_011528011.1:c.1673C>A	XP_011526313.1:p.Pro558Gln
XR_244074.2:n.2064C>A
XM_011528010.2:c.2054C>A	XP_011526312.1:p.Pro685Gln
XR_001753685.2:n.2171C>A
XR_001753686.2:n.2031C>A
NM_000527.5:c.2054C>A MANE Select	NP_000518.1:p.Pro685Gln
NM_001195798.2:c.2054C>A	NP_001182727.1:p.Pro685Gln
NM_001195799.2:c.1931C>A	NP_001182728.1:p.Pro644Gln
NM_001195800.2:c.1550C>A	NP_001182729.1:p.Pro517Gln
NM_001195803.2:c.1606+203C>A	NP_001182732.1:n.1606+203C>A