Canonical Allele Identifier: CA305308133

Gene: LDLR

Linked Data

• dbSNP Id: rs868575103
• MyVariant Identifiers: chr19:g.11238499T>C (hg19) ; chr19:g.11127823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11127823T>C , CM000681.2:g.11127823T>C	GRCh38
NC_000019.9:g.11238499T>C , CM000681.1:g.11238499T>C	GRCh37
NC_000019.8:g.11099499T>C	NCBI36
NG_009060.1:g.43443T>C , LRG_274:g.43443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2570-185T>C	ENSP00000252444.6:n.2570-185T>C
ENST00000559340.2:c.*381-185T>C	ENSP00000453696.2:n.*381-185T>C
ENST00000560467.2:c.2192-185T>C	ENSP00000453513.2:n.2192-185T>C
ENST00000558518.6:c.2312-185T>C MANE Select	ENSP00000454071.1:n.2312-185T>C
ENST00000252444.9:c.2566-185T>C
ENST00000455727.6:c.1808-185T>C	ENSP00000397829.2:n.1808-185T>C
ENST00000535915.5:c.2189-185T>C	ENSP00000440520.1:n.2189-185T>C
ENST00000545707.5:c.1778-185T>C	ENSP00000437639.1:n.1778-185T>C
ENST00000557933.5:c.2312-185T>C	ENSP00000453557.1:n.2312-185T>C
ENST00000558013.5:c.2312-185T>C	ENSP00000453346.1:n.2312-185T>C
ENST00000558518.5:c.2312-185T>C	ENSP00000454071.1:n.2312-185T>C
ENST00000560628.1:n.108+169T>C
NM_000527.4:c.2312-185T>C , LRG_274t1:c.2312-185T>C	NP_000518.1:n.2312-185T>C
NM_001195798.1:c.2312-185T>C	NP_001182727.1:n.2312-185T>C
NM_001195799.1:c.2189-185T>C	NP_001182728.1:n.2189-185T>C
NM_001195800.1:c.1808-185T>C	NP_001182729.1:n.1808-185T>C
NM_001195803.1:c.1778-185T>C	NP_001182732.1:n.1778-185T>C
XM_011528010.1:c.2312-1690T>C	XP_011526312.1:n.2312-1690T>C
XM_011528011.1:c.1931-185T>C	XP_011526313.1:n.1931-185T>C
XR_244074.2:n.2322-185T>C
XM_011528010.2:c.2312-1690T>C	XP_011526312.1:n.2312-1690T>C
XR_001753685.2:n.2646-185T>C
XR_001753686.2:n.2289-185T>C
NM_000527.5:c.2312-185T>C MANE Select	NP_000518.1:n.2312-185T>C
NM_001195798.2:c.2312-185T>C	NP_001182727.1:n.2312-185T>C
NM_001195799.2:c.2189-185T>C	NP_001182728.1:n.2189-185T>C
NM_001195800.2:c.1808-185T>C	NP_001182729.1:n.1808-185T>C
NM_001195803.2:c.1778-185T>C	NP_001182732.1:n.1778-185T>C