Canonical Allele Identifier: CA404083899

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2845363
• ClinVar RCV Id: RCV003742105
• MyVariant Identifiers: chr19:g.11222300G>C (hg19) ; chr19:g.11111624G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111624G>C , CM000681.2:g.11111624G>C	GRCh38
NC_000019.9:g.11222300G>C , CM000681.1:g.11222300G>C	GRCh37
NC_000019.8:g.11083300G>C	NCBI36
NG_009060.1:g.27244G>C , LRG_274:g.27244G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1429G>C	ENSP00000252444.6:p.Ala477Pro
ENST00000559340.2:c.1171G>C	ENSP00000453696.2:p.Ala391Pro
ENST00000560467.2:c.1051G>C	ENSP00000453513.2:p.Ala351Pro
ENST00000558518.6:c.1171G>C MANE Select	ENSP00000454071.1:p.Ala391Pro
ENST00000252444.9:c.1425G>C
ENST00000455727.6:c.667G>C	ENSP00000397829.2:p.Ala223Pro
ENST00000535915.5:c.1048G>C	ENSP00000440520.1:p.Ala350Pro
ENST00000545707.5:c.790G>C	ENSP00000437639.1:p.Ala264Pro
ENST00000557933.5:c.1171G>C	ENSP00000453557.1:p.Ala391Pro
ENST00000558013.5:c.1171G>C	ENSP00000453346.1:p.Ala391Pro
ENST00000558518.5:c.1171G>C	ENSP00000454071.1:p.Ala391Pro
ENST00000560173.1:n.170G>C
ENST00000560467.1:c.651G>C
NM_000527.4:c.1171G>C , LRG_274t1:c.1171G>C	NP_000518.1:p.Ala391Pro
NM_001195798.1:c.1171G>C	NP_001182727.1:p.Ala391Pro
NM_001195799.1:c.1048G>C	NP_001182728.1:p.Ala350Pro
NM_001195800.1:c.667G>C	NP_001182729.1:p.Ala223Pro
NM_001195803.1:c.790G>C	NP_001182732.1:p.Ala264Pro
XM_011528010.1:c.1171G>C	XP_011526312.1:p.Ala391Pro
XM_011528011.1:c.790G>C	XP_011526313.1:p.Ala264Pro
XR_244074.2:n.1321G>C
XM_011528010.2:c.1171G>C	XP_011526312.1:p.Ala391Pro
XR_001753685.2:n.1288G>C
XR_001753686.2:n.1288G>C
NM_000527.5:c.1171G>C MANE Select	NP_000518.1:p.Ala391Pro
NM_001195798.2:c.1171G>C	NP_001182727.1:p.Ala391Pro
NM_001195799.2:c.1048G>C	NP_001182728.1:p.Ala350Pro
NM_001195800.2:c.667G>C	NP_001182729.1:p.Ala223Pro
NM_001195803.2:c.790G>C	NP_001182732.1:p.Ala264Pro