Canonical Allele Identifier: CA034759

Gene: LDLR

Linked Data

• dbSNP Id: rs749126200
• ExAC: 19:11224402 C / G
• gnomAD v2: 19-11224402-C-G
• gnomAD v4: 19-11113726-C-G
• MyVariant Identifiers: chr19:g.11224402C>G (hg19) ; chr19:g.11113726C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1808C>G	ENSP00000252444.6:p.Ser603Cys
ENST00000559340.2:c.1550C>G	ENSP00000453696.2:p.Ser517Cys
ENST00000560467.2:c.1430C>G	ENSP00000453513.2:p.Ser477Cys
ENST00000558518.6:c.1550C>G MANE Select	ENSP00000454071.1:p.Ser517Cys
ENST00000252444.9:c.1804C>G
ENST00000455727.6:c.1046C>G	ENSP00000397829.2:p.Ser349Cys
ENST00000535915.5:c.1427C>G	ENSP00000440520.1:p.Ser476Cys
ENST00000545707.5:c.1169C>G	ENSP00000437639.1:p.Ser390Cys
ENST00000557933.5:c.1550C>G	ENSP00000453557.1:p.Ser517Cys
ENST00000558013.5:c.1550C>G	ENSP00000453346.1:p.Ser517Cys
ENST00000558518.5:c.1550C>G	ENSP00000454071.1:p.Ser517Cys
ENST00000559340.1:c.271C>G
NM_000527.4:c.1550C>G , LRG_274t1:c.1550C>G	NP_000518.1:p.Ser517Cys
NM_001195798.1:c.1550C>G	NP_001182727.1:p.Ser517Cys
NM_001195799.1:c.1427C>G	NP_001182728.1:p.Ser476Cys
NM_001195800.1:c.1046C>G	NP_001182729.1:p.Ser349Cys
NM_001195803.1:c.1169C>G	NP_001182732.1:p.Ser390Cys
XM_011528010.1:c.1550C>G	XP_011526312.1:p.Ser517Cys
XM_011528011.1:c.1169C>G	XP_011526313.1:p.Ser390Cys
XR_244074.2:n.1700C>G
XM_011528010.2:c.1550C>G	XP_011526312.1:p.Ser517Cys
XR_001753685.2:n.1667C>G
XR_001753686.2:n.1667C>G
NM_000527.5:c.1550C>G MANE Select	NP_000518.1:p.Ser517Cys
NM_001195798.2:c.1550C>G	NP_001182727.1:p.Ser517Cys
NM_001195799.2:c.1427C>G	NP_001182728.1:p.Ser476Cys
NM_001195800.2:c.1046C>G	NP_001182729.1:p.Ser349Cys
NM_001195803.2:c.1169C>G	NP_001182732.1:p.Ser390Cys