Canonical Allele Identifier: CA404096784

Gene: LDLR

Linked Data

• dbSNP Id: rs1192550712
• MyVariant Identifiers: chr19:g.11238723C>T (hg19) ; chr19:g.11128047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128047C>T , CM000681.2:g.11128047C>T	GRCh38
NC_000019.9:g.11238723C>T , CM000681.1:g.11238723C>T	GRCh37
NC_000019.8:g.11099723C>T	NCBI36
NG_009060.1:g.43667C>T , LRG_274:g.43667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2609C>T	ENSP00000252444.6:p.Pro870Leu
ENST00000559340.2:c.*420C>T	ENSP00000453696.2:n.*420C>T
ENST00000560467.2:c.2231C>T	ENSP00000453513.2:p.Pro744Leu
ENST00000558518.6:c.2351C>T MANE Select	ENSP00000454071.1:p.Pro784Leu
ENST00000252444.9:c.2605C>T
ENST00000455727.6:c.1847C>T	ENSP00000397829.2:p.Pro616Leu
ENST00000535915.5:c.2228C>T	ENSP00000440520.1:p.Pro743Leu
ENST00000545707.5:c.1817C>T	ENSP00000437639.1:p.Pro606Leu
ENST00000557933.5:c.2351C>T	ENSP00000453557.1:p.Pro784Leu
ENST00000558013.5:c.2351C>T	ENSP00000453346.1:p.Pro784Leu
ENST00000558518.5:c.2351C>T	ENSP00000454071.1:p.Pro784Leu
ENST00000560628.1:n.108+393C>T
NM_000527.4:c.2351C>T , LRG_274t1:c.2351C>T	NP_000518.1:p.Pro784Leu
NM_001195798.1:c.2351C>T	NP_001182727.1:p.Pro784Leu
NM_001195799.1:c.2228C>T	NP_001182728.1:p.Pro743Leu
NM_001195800.1:c.1847C>T	NP_001182729.1:p.Pro616Leu
NM_001195803.1:c.1817C>T	NP_001182732.1:p.Pro606Leu
XM_011528010.1:c.2312-1466C>T	XP_011526312.1:n.2312-1466C>T
XM_011528011.1:c.1970C>T	XP_011526313.1:p.Pro657Leu
XR_244074.2:n.2361C>T
XM_011528010.2:c.2312-1466C>T	XP_011526312.1:n.2312-1466C>T
XR_001753685.2:n.2685C>T
XR_001753686.2:n.2328C>T
NM_000527.5:c.2351C>T MANE Select	NP_000518.1:p.Pro784Leu
NM_001195798.2:c.2351C>T	NP_001182727.1:p.Pro784Leu
NM_001195799.2:c.2228C>T	NP_001182728.1:p.Pro743Leu
NM_001195800.2:c.1847C>T	NP_001182729.1:p.Pro616Leu
NM_001195803.2:c.1817C>T	NP_001182732.1:p.Pro606Leu