Canonical Allele Identifier: CA505743363

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11230788T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120112T>C , CM000681.2:g.11120112T>C	GRCh38
NC_000019.9:g.11230788T>C , CM000681.1:g.11230788T>C	GRCh37
NC_000019.8:g.11091788T>C	NCBI36
NG_009060.1:g.35732T>C , LRG_274:g.35732T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2124T>C	ENSP00000252444.6:p.Asp708=
ENST00000559340.2:c.1726T>C	ENSP00000453696.2:p.Tyr576His
ENST00000560467.2:c.1746T>C	ENSP00000453513.2:p.Asp582=
ENST00000558518.6:c.1866T>C MANE Select	ENSP00000454071.1:p.Asp622=
ENST00000252444.9:c.2120T>C
ENST00000455727.6:c.1362T>C	ENSP00000397829.2:p.Asp454=
ENST00000535915.5:c.1743T>C	ENSP00000440520.1:p.Asp581=
ENST00000545707.5:c.1485T>C	ENSP00000437639.1:p.Asp495=
ENST00000557933.5:c.1866T>C	ENSP00000453557.1:p.Asp622=
ENST00000558013.5:c.1866T>C	ENSP00000453346.1:p.Asp622=
ENST00000558518.5:c.1866T>C	ENSP00000454071.1:p.Asp622=
ENST00000559340.1:c.447T>C
NM_000527.4:c.1866T>C , LRG_274t1:c.1866T>C	NP_000518.1:p.Asp622=
NM_001195798.1:c.1866T>C	NP_001182727.1:p.Asp622=
NM_001195799.1:c.1743T>C	NP_001182728.1:p.Asp581=
NM_001195800.1:c.1362T>C	NP_001182729.1:p.Asp454=
NM_001195803.1:c.1485T>C	NP_001182732.1:p.Asp495=
XM_011528010.1:c.1866T>C	XP_011526312.1:p.Asp622=
XM_011528011.1:c.1485T>C	XP_011526313.1:p.Asp495=
XR_244074.2:n.1876T>C
XM_011528010.2:c.1866T>C	XP_011526312.1:p.Asp622=
XR_001753685.2:n.1983T>C
XR_001753686.2:n.1843T>C
NM_000527.5:c.1866T>C MANE Select	NP_000518.1:p.Asp622=
NM_001195798.2:c.1866T>C	NP_001182727.1:p.Asp622=
NM_001195799.2:c.1743T>C	NP_001182728.1:p.Asp581=
NM_001195800.2:c.1362T>C	NP_001182729.1:p.Asp454=
NM_001195803.2:c.1485T>C	NP_001182732.1:p.Asp495=