Canonical Allele Identifier: CA404092966

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11230849G>A (hg19) ; chr19:g.11120173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120173G>A , CM000681.2:g.11120173G>A	GRCh38
NC_000019.9:g.11230849G>A , CM000681.1:g.11230849G>A	GRCh37
NC_000019.8:g.11091849G>A	NCBI36
NG_009060.1:g.35793G>A , LRG_274:g.35793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2185G>A	ENSP00000252444.6:p.Ala729Thr
ENST00000559340.2:c.1787G>A	ENSP00000453696.2:p.Gly596Asp
ENST00000560467.2:c.1807G>A	ENSP00000453513.2:p.Ala603Thr
ENST00000558518.6:c.1927G>A MANE Select	ENSP00000454071.1:p.Ala643Thr
ENST00000252444.9:c.2181G>A
ENST00000455727.6:c.1423G>A	ENSP00000397829.2:p.Ala475Thr
ENST00000535915.5:c.1804G>A	ENSP00000440520.1:p.Ala602Thr
ENST00000545707.5:c.1546G>A	ENSP00000437639.1:p.Ala516Thr
ENST00000557933.5:c.1927G>A	ENSP00000453557.1:p.Ala643Thr
ENST00000558013.5:c.1927G>A	ENSP00000453346.1:p.Ala643Thr
ENST00000558518.5:c.1927G>A	ENSP00000454071.1:p.Ala643Thr
ENST00000559340.1:c.508G>A
NM_000527.4:c.1927G>A , LRG_274t1:c.1927G>A	NP_000518.1:p.Ala643Thr
NM_001195798.1:c.1927G>A	NP_001182727.1:p.Ala643Thr
NM_001195799.1:c.1804G>A	NP_001182728.1:p.Ala602Thr
NM_001195800.1:c.1423G>A	NP_001182729.1:p.Ala475Thr
NM_001195803.1:c.1546G>A	NP_001182732.1:p.Ala516Thr
XM_011528010.1:c.1927G>A	XP_011526312.1:p.Ala643Thr
XM_011528011.1:c.1546G>A	XP_011526313.1:p.Ala516Thr
XR_244074.2:n.1937G>A
XM_011528010.2:c.1927G>A	XP_011526312.1:p.Ala643Thr
XR_001753685.2:n.2044G>A
XR_001753686.2:n.1904G>A
NM_000527.5:c.1927G>A MANE Select	NP_000518.1:p.Ala643Thr
NM_001195798.2:c.1927G>A	NP_001182727.1:p.Ala643Thr
NM_001195799.2:c.1804G>A	NP_001182728.1:p.Ala602Thr
NM_001195800.2:c.1423G>A	NP_001182729.1:p.Ala475Thr
NM_001195803.2:c.1546G>A	NP_001182732.1:p.Ala516Thr