Canonical Allele Identifier: CA404093504

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11231072C>G (hg19) ; chr19:g.11120396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120396C>G , CM000681.2:g.11120396C>G	GRCh38
NC_000019.9:g.11231072C>G , CM000681.1:g.11231072C>G	GRCh37
NC_000019.8:g.11092072C>G	NCBI36
NG_009060.1:g.36016C>G , LRG_274:g.36016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2272C>G	ENSP00000252444.6:p.Leu758Val
ENST00000559340.2:c.*83C>G	ENSP00000453696.2:n.*83C>G
ENST00000560467.2:c.1894C>G	ENSP00000453513.2:p.Leu632Val
ENST00000558518.6:c.2014C>G MANE Select	ENSP00000454071.1:p.Leu672Val
ENST00000252444.9:c.2268C>G
ENST00000455727.6:c.1510C>G	ENSP00000397829.2:p.Leu504Val
ENST00000535915.5:c.1891C>G	ENSP00000440520.1:p.Leu631Val
ENST00000545707.5:c.1606+163C>G	ENSP00000437639.1:n.1606+163C>G
ENST00000557933.5:c.2014C>G	ENSP00000453557.1:p.Leu672Val
ENST00000558013.5:c.2014C>G	ENSP00000453346.1:p.Leu672Val
ENST00000558518.5:c.2014C>G	ENSP00000454071.1:p.Leu672Val
ENST00000559340.1:c.595C>G
NM_000527.4:c.2014C>G , LRG_274t1:c.2014C>G	NP_000518.1:p.Leu672Val
NM_001195798.1:c.2014C>G	NP_001182727.1:p.Leu672Val
NM_001195799.1:c.1891C>G	NP_001182728.1:p.Leu631Val
NM_001195800.1:c.1510C>G	NP_001182729.1:p.Leu504Val
NM_001195803.1:c.1606+163C>G	NP_001182732.1:n.1606+163C>G
XM_011528010.1:c.2014C>G	XP_011526312.1:p.Leu672Val
XM_011528011.1:c.1633C>G	XP_011526313.1:p.Leu545Val
XR_244074.2:n.2024C>G
XM_011528010.2:c.2014C>G	XP_011526312.1:p.Leu672Val
XR_001753685.2:n.2131C>G
XR_001753686.2:n.1991C>G
NM_000527.5:c.2014C>G MANE Select	NP_000518.1:p.Leu672Val
NM_001195798.2:c.2014C>G	NP_001182727.1:p.Leu672Val
NM_001195799.2:c.1891C>G	NP_001182728.1:p.Leu631Val
NM_001195800.2:c.1510C>G	NP_001182729.1:p.Leu504Val
NM_001195803.2:c.1606+163C>G	NP_001182732.1:n.1606+163C>G