Canonical Allele Identifier: CA404084738

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440633
• ClinVar RCV Id: RCV000508811
• dbSNP Id: rs1225797407
• MyVariant Identifiers: chr19:g.11224001A>C (hg19) ; chr19:g.11113325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113325A>C , CM000681.2:g.11113325A>C	GRCh38
NC_000019.9:g.11224001A>C , CM000681.1:g.11224001A>C	GRCh37
NC_000019.8:g.11085001A>C	NCBI36
NG_009060.1:g.28945A>C , LRG_274:g.28945A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1492A>C	ENSP00000252444.6:p.Met498Leu
ENST00000559340.2:c.1234A>C	ENSP00000453696.2:p.Met412Leu
ENST00000560467.2:c.1114A>C	ENSP00000453513.2:p.Met372Leu
ENST00000558518.6:c.1234A>C MANE Select	ENSP00000454071.1:p.Met412Leu
ENST00000252444.9:c.1488A>C
ENST00000455727.6:c.730A>C	ENSP00000397829.2:p.Met244Leu
ENST00000535915.5:c.1111A>C	ENSP00000440520.1:p.Met371Leu
ENST00000545707.5:c.853A>C	ENSP00000437639.1:p.Met285Leu
ENST00000557933.5:c.1234A>C	ENSP00000453557.1:p.Met412Leu
ENST00000558013.5:c.1234A>C	ENSP00000453346.1:p.Met412Leu
ENST00000558518.5:c.1234A>C	ENSP00000454071.1:p.Met412Leu
ENST00000560173.1:n.233A>C
ENST00000560467.1:c.714A>C
NM_000527.4:c.1234A>C , LRG_274t1:c.1234A>C	NP_000518.1:p.Met412Leu
NM_001195798.1:c.1234A>C	NP_001182727.1:p.Met412Leu
NM_001195799.1:c.1111A>C	NP_001182728.1:p.Met371Leu
NM_001195800.1:c.730A>C	NP_001182729.1:p.Met244Leu
NM_001195803.1:c.853A>C	NP_001182732.1:p.Met285Leu
XM_011528010.1:c.1234A>C	XP_011526312.1:p.Met412Leu
XM_011528011.1:c.853A>C	XP_011526313.1:p.Met285Leu
XR_244074.2:n.1384A>C
XM_011528010.2:c.1234A>C	XP_011526312.1:p.Met412Leu
XR_001753685.2:n.1351A>C
XR_001753686.2:n.1351A>C
NM_000527.5:c.1234A>C MANE Select	NP_000518.1:p.Met412Leu
NM_001195798.2:c.1234A>C	NP_001182727.1:p.Met412Leu
NM_001195799.2:c.1111A>C	NP_001182728.1:p.Met371Leu
NM_001195800.2:c.730A>C	NP_001182729.1:p.Met244Leu
NM_001195803.2:c.853A>C	NP_001182732.1:p.Met285Leu