Canonical Allele Identifier: CA10585445

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251834
• ClinVar RCV Id: RCV000237588
• dbSNP Id: rs201967266
• MyVariant Identifiers: chr19:g.11224272C>T (hg19) ; chr19:g.11113596C>T (hg38)
• PubMed: PMID:11810272

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113596C>T , CM000681.2:g.11113596C>T	GRCh38
NC_000019.9:g.11224272C>T , CM000681.1:g.11224272C>T	GRCh37
NC_000019.8:g.11085272C>T	NCBI36
NG_009060.1:g.29216C>T , LRG_274:g.29216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1678C>T	ENSP00000252444.6:p.Gln560Ter
ENST00000559340.2:c.1420C>T	ENSP00000453696.2:p.Gln474Ter
ENST00000560467.2:c.1300C>T	ENSP00000453513.2:p.Gln434Ter
ENST00000558518.6:c.1420C>T MANE Select	ENSP00000454071.1:p.Gln474Ter
ENST00000252444.9:c.1674C>T
ENST00000455727.6:c.916C>T	ENSP00000397829.2:p.Gln306Ter
ENST00000535915.5:c.1297C>T	ENSP00000440520.1:p.Gln433Ter
ENST00000545707.5:c.1039C>T	ENSP00000437639.1:p.Gln347Ter
ENST00000557933.5:c.1420C>T	ENSP00000453557.1:p.Gln474Ter
ENST00000558013.5:c.1420C>T	ENSP00000453346.1:p.Gln474Ter
ENST00000558518.5:c.1420C>T	ENSP00000454071.1:p.Gln474Ter
ENST00000559340.1:c.141C>T
ENST00000560467.1:c.900C>T
NM_000527.4:c.1420C>T , LRG_274t1:c.1420C>T	NP_000518.1:p.Gln474Ter
NM_001195798.1:c.1420C>T	NP_001182727.1:p.Gln474Ter
NM_001195799.1:c.1297C>T	NP_001182728.1:p.Gln433Ter
NM_001195800.1:c.916C>T	NP_001182729.1:p.Gln306Ter
NM_001195803.1:c.1039C>T	NP_001182732.1:p.Gln347Ter
XM_011528010.1:c.1420C>T	XP_011526312.1:p.Gln474Ter
XM_011528011.1:c.1039C>T	XP_011526313.1:p.Gln347Ter
XR_244074.2:n.1570C>T
XM_011528010.2:c.1420C>T	XP_011526312.1:p.Gln474Ter
XR_001753685.2:n.1537C>T
XR_001753686.2:n.1537C>T
NM_000527.5:c.1420C>T MANE Select	NP_000518.1:p.Gln474Ter
NM_001195798.2:c.1420C>T	NP_001182727.1:p.Gln474Ter
NM_001195799.2:c.1297C>T	NP_001182728.1:p.Gln433Ter
NM_001195800.2:c.916C>T	NP_001182729.1:p.Gln306Ter
NM_001195803.2:c.1039C>T	NP_001182732.1:p.Gln347Ter