Canonical Allele Identifier: CA404071528

Gene: LDLR LDLR-AS1

Linked Data

• ClinVar Variation Id: 643347
• ClinVar RCV Id: RCV000797028
• dbSNP Id: rs1600683674
• MyVariant Identifiers: chr19:g.11200255A>T (hg19) ; chr19:g.11089579A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089579A>T , CM000681.2:g.11089579A>T	GRCh38
NC_000019.9:g.11200255A>T , CM000681.1:g.11200255A>T	GRCh37
NC_000019.8:g.11061255A>T	NCBI36
NG_009060.1:g.5199A>T , LRG_274:g.5199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559340.2:c.31A>T (LDLR)	ENSP00000453696.2:p.Thr11Ser
ENST00000560467.2:c.31A>T (LDLR)	ENSP00000453513.2:p.Thr11Ser
ENST00000558518.6:c.31A>T (LDLR) MANE Select	ENSP00000454071.1:p.Thr11Ser
ENST00000455727.6:c.31A>T (LDLR)	ENSP00000397829.2:p.Thr11Ser
ENST00000535915.5:c.31A>T (LDLR)	ENSP00000440520.1:p.Thr11Ser
ENST00000545707.5:c.31A>T (LDLR)	ENSP00000437639.1:p.Thr11Ser
ENST00000557933.5:c.31A>T (LDLR)	ENSP00000453557.1:p.Thr11Ser
ENST00000557958.1:n.117A>T (LDLR)
ENST00000558013.5:c.31A>T (LDLR)	ENSP00000453346.1:p.Thr11Ser
ENST00000558518.5:c.31A>T (LDLR)	ENSP00000454071.1:p.Thr11Ser
ENST00000560502.5:n.117A>T (LDLR)
NM_000527.4:c.31A>T , LRG_274t1:c.31A>T (LDLR)	NP_000518.1:p.Thr11Ser
NM_001195798.1:c.31A>T (LDLR)	NP_001182727.1:p.Thr11Ser
NM_001195799.1:c.31A>T (LDLR)	NP_001182728.1:p.Thr11Ser
NM_001195800.1:c.31A>T (LDLR)	NP_001182729.1:p.Thr11Ser
NM_001195803.1:c.31A>T (LDLR)	NP_001182732.1:p.Thr11Ser
XM_011528010.1:c.31A>T (LDLR)	XP_011526312.1:p.Thr11Ser
XM_011528011.1:c.31A>T (LDLR)	XP_011526313.1:p.Thr11Ser
XR_244074.2:n.181A>T (LDLR)
XM_011528010.2:c.31A>T (LDLR)	XP_011526312.1:p.Thr11Ser
XR_001753685.2:n.148A>T (LDLR)
XR_001753686.2:n.148A>T (LDLR)
NM_000527.5:c.31A>T (LDLR) MANE Select	NP_000518.1:p.Thr11Ser
NM_001195798.2:c.31A>T (LDLR)	NP_001182727.1:p.Thr11Ser
NM_001195799.2:c.31A>T (LDLR)	NP_001182728.1:p.Thr11Ser
NM_001195800.2:c.31A>T (LDLR)	NP_001182729.1:p.Thr11Ser
NM_001195803.2:c.31A>T (LDLR)	NP_001182732.1:p.Thr11Ser
NR_163945.1:n.81T>A (LDLR-AS1)