Canonical Allele Identifier: CA505485527

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1973920
• ClinVar RCV Id: RCV002741071
• MyVariant Identifiers: chr19:g.11222197T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111521T>C , CM000681.2:g.11111521T>C	GRCh38
NC_000019.9:g.11222197T>C , CM000681.1:g.11222197T>C	GRCh37
NC_000019.8:g.11083197T>C	NCBI36
NG_009060.1:g.27141T>C , LRG_274:g.27141T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1326T>C	ENSP00000252444.6:p.Asp442=
ENST00000559340.2:c.1068T>C	ENSP00000453696.2:p.Asp356=
ENST00000560467.2:c.948T>C	ENSP00000453513.2:p.Asp316=
ENST00000558518.6:c.1068T>C MANE Select	ENSP00000454071.1:p.Asp356=
ENST00000252444.9:c.1322T>C
ENST00000455727.6:c.564T>C	ENSP00000397829.2:p.Asp188=
ENST00000535915.5:c.945T>C	ENSP00000440520.1:p.Asp315=
ENST00000545707.5:c.687T>C	ENSP00000437639.1:p.Asp229=
ENST00000557933.5:c.1068T>C	ENSP00000453557.1:p.Asp356=
ENST00000558013.5:c.1068T>C	ENSP00000453346.1:p.Asp356=
ENST00000558518.5:c.1068T>C	ENSP00000454071.1:p.Asp356=
ENST00000560173.1:n.67T>C
ENST00000560467.1:c.548T>C
NM_000527.4:c.1068T>C , LRG_274t1:c.1068T>C	NP_000518.1:p.Asp356=
NM_001195798.1:c.1068T>C	NP_001182727.1:p.Asp356=
NM_001195799.1:c.945T>C	NP_001182728.1:p.Asp315=
NM_001195800.1:c.564T>C	NP_001182729.1:p.Asp188=
NM_001195803.1:c.687T>C	NP_001182732.1:p.Asp229=
XM_011528010.1:c.1068T>C	XP_011526312.1:p.Asp356=
XM_011528011.1:c.687T>C	XP_011526313.1:p.Asp229=
XR_244074.2:n.1218T>C
XM_011528010.2:c.1068T>C	XP_011526312.1:p.Asp356=
XR_001753685.2:n.1185T>C
XR_001753686.2:n.1185T>C
NM_000527.5:c.1068T>C MANE Select	NP_000518.1:p.Asp356=
NM_001195798.2:c.1068T>C	NP_001182727.1:p.Asp356=
NM_001195799.2:c.945T>C	NP_001182728.1:p.Asp315=
NM_001195800.2:c.564T>C	NP_001182729.1:p.Asp188=
NM_001195803.2:c.687T>C	NP_001182732.1:p.Asp229=