Canonical Allele Identifier: CA16609811

Gene: LDLR

Linked Data

• ClinVar Variation Id: 403636
• ClinVar RCV Id: RCV000454806
• dbSNP Id: rs1060499921
• MyVariant Identifiers: chr19:g.11222306A>C (hg19) ; chr19:g.11111630A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111630A>C , CM000681.2:g.11111630A>C	GRCh38
NC_000019.9:g.11222306A>C , CM000681.1:g.11222306A>C	GRCh37
NC_000019.8:g.11083306A>C	NCBI36
NG_009060.1:g.27250A>C , LRG_274:g.27250A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1435A>C	ENSP00000252444.6:p.Lys479Gln
ENST00000559340.2:c.1177A>C	ENSP00000453696.2:p.Lys393Gln
ENST00000560467.2:c.1057A>C	ENSP00000453513.2:p.Lys353Gln
ENST00000558518.6:c.1177A>C MANE Select	ENSP00000454071.1:p.Lys393Gln
ENST00000252444.9:c.1431A>C
ENST00000455727.6:c.673A>C	ENSP00000397829.2:p.Lys225Gln
ENST00000535915.5:c.1054A>C	ENSP00000440520.1:p.Lys352Gln
ENST00000545707.5:c.796A>C	ENSP00000437639.1:p.Lys266Gln
ENST00000557933.5:c.1177A>C	ENSP00000453557.1:p.Lys393Gln
ENST00000558013.5:c.1177A>C	ENSP00000453346.1:p.Lys393Gln
ENST00000558518.5:c.1177A>C	ENSP00000454071.1:p.Lys393Gln
ENST00000560173.1:n.176A>C
ENST00000560467.1:c.657A>C
NM_000527.4:c.1177A>C , LRG_274t1:c.1177A>C	NP_000518.1:p.Lys393Gln
NM_001195798.1:c.1177A>C	NP_001182727.1:p.Lys393Gln
NM_001195799.1:c.1054A>C	NP_001182728.1:p.Lys352Gln
NM_001195800.1:c.673A>C	NP_001182729.1:p.Lys225Gln
NM_001195803.1:c.796A>C	NP_001182732.1:p.Lys266Gln
XM_011528010.1:c.1177A>C	XP_011526312.1:p.Lys393Gln
XM_011528011.1:c.796A>C	XP_011526313.1:p.Lys266Gln
XR_244074.2:n.1327A>C
XM_011528010.2:c.1177A>C	XP_011526312.1:p.Lys393Gln
XR_001753685.2:n.1294A>C
XR_001753686.2:n.1294A>C
NM_000527.5:c.1177A>C MANE Select	NP_000518.1:p.Lys393Gln
NM_001195798.2:c.1177A>C	NP_001182727.1:p.Lys393Gln
NM_001195799.2:c.1054A>C	NP_001182728.1:p.Lys352Gln
NM_001195800.2:c.673A>C	NP_001182729.1:p.Lys225Gln
NM_001195803.2:c.796A>C	NP_001182732.1:p.Lys266Gln