Canonical Allele Identifier: CA404086568

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1321218
• ClinVar RCV Id: RCV002227545
• dbSNP Id: rs749126200
• MyVariant Identifiers: chr19:g.11224402C>T (hg19) ; chr19:g.11113726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113726C>T , CM000681.2:g.11113726C>T	GRCh38
NC_000019.9:g.11224402C>T , CM000681.1:g.11224402C>T	GRCh37
NC_000019.8:g.11085402C>T	NCBI36
NG_009060.1:g.29346C>T , LRG_274:g.29346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1808C>T	ENSP00000252444.6:p.Ser603Phe
ENST00000559340.2:c.1550C>T	ENSP00000453696.2:p.Ser517Phe
ENST00000560467.2:c.1430C>T	ENSP00000453513.2:p.Ser477Phe
ENST00000558518.6:c.1550C>T MANE Select	ENSP00000454071.1:p.Ser517Phe
ENST00000252444.9:c.1804C>T
ENST00000455727.6:c.1046C>T	ENSP00000397829.2:p.Ser349Phe
ENST00000535915.5:c.1427C>T	ENSP00000440520.1:p.Ser476Phe
ENST00000545707.5:c.1169C>T	ENSP00000437639.1:p.Ser390Phe
ENST00000557933.5:c.1550C>T	ENSP00000453557.1:p.Ser517Phe
ENST00000558013.5:c.1550C>T	ENSP00000453346.1:p.Ser517Phe
ENST00000558518.5:c.1550C>T	ENSP00000454071.1:p.Ser517Phe
ENST00000559340.1:c.271C>T
NM_000527.4:c.1550C>T , LRG_274t1:c.1550C>T	NP_000518.1:p.Ser517Phe
NM_001195798.1:c.1550C>T	NP_001182727.1:p.Ser517Phe
NM_001195799.1:c.1427C>T	NP_001182728.1:p.Ser476Phe
NM_001195800.1:c.1046C>T	NP_001182729.1:p.Ser349Phe
NM_001195803.1:c.1169C>T	NP_001182732.1:p.Ser390Phe
XM_011528010.1:c.1550C>T	XP_011526312.1:p.Ser517Phe
XM_011528011.1:c.1169C>T	XP_011526313.1:p.Ser390Phe
XR_244074.2:n.1700C>T
XM_011528010.2:c.1550C>T	XP_011526312.1:p.Ser517Phe
XR_001753685.2:n.1667C>T
XR_001753686.2:n.1667C>T
NM_000527.5:c.1550C>T MANE Select	NP_000518.1:p.Ser517Phe
NM_001195798.2:c.1550C>T	NP_001182727.1:p.Ser517Phe
NM_001195799.2:c.1427C>T	NP_001182728.1:p.Ser476Phe
NM_001195800.2:c.1046C>T	NP_001182729.1:p.Ser349Phe
NM_001195803.2:c.1169C>T	NP_001182732.1:p.Ser390Phe