Canonical Allele Identifier: CA404096782

Gene: LDLR

Linked Data

• ClinVar Variation Id: 918645
• ClinVar RCV Id: RCV001176372
• dbSNP Id: rs2077661446
• MyVariant Identifiers: chr19:g.11238722C>T (hg19) ; chr19:g.11128046C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128046C>T , CM000681.2:g.11128046C>T	GRCh38
NC_000019.9:g.11238722C>T , CM000681.1:g.11238722C>T	GRCh37
NC_000019.8:g.11099722C>T	NCBI36
NG_009060.1:g.43666C>T , LRG_274:g.43666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2608C>T	ENSP00000252444.6:p.Pro870Ser
ENST00000559340.2:c.*419C>T	ENSP00000453696.2:n.*419C>T
ENST00000560467.2:c.2230C>T	ENSP00000453513.2:p.Pro744Ser
ENST00000558518.6:c.2350C>T MANE Select	ENSP00000454071.1:p.Pro784Ser
ENST00000252444.9:c.2604C>T
ENST00000455727.6:c.1846C>T	ENSP00000397829.2:p.Pro616Ser
ENST00000535915.5:c.2227C>T	ENSP00000440520.1:p.Pro743Ser
ENST00000545707.5:c.1816C>T	ENSP00000437639.1:p.Pro606Ser
ENST00000557933.5:c.2350C>T	ENSP00000453557.1:p.Pro784Ser
ENST00000558013.5:c.2350C>T	ENSP00000453346.1:p.Pro784Ser
ENST00000558518.5:c.2350C>T	ENSP00000454071.1:p.Pro784Ser
ENST00000560628.1:n.108+392C>T
NM_000527.4:c.2350C>T , LRG_274t1:c.2350C>T	NP_000518.1:p.Pro784Ser
NM_001195798.1:c.2350C>T	NP_001182727.1:p.Pro784Ser
NM_001195799.1:c.2227C>T	NP_001182728.1:p.Pro743Ser
NM_001195800.1:c.1846C>T	NP_001182729.1:p.Pro616Ser
NM_001195803.1:c.1816C>T	NP_001182732.1:p.Pro606Ser
XM_011528010.1:c.2312-1467C>T	XP_011526312.1:n.2312-1467C>T
XM_011528011.1:c.1969C>T	XP_011526313.1:p.Pro657Ser
XR_244074.2:n.2360C>T
XM_011528010.2:c.2312-1467C>T	XP_011526312.1:n.2312-1467C>T
XR_001753685.2:n.2684C>T
XR_001753686.2:n.2327C>T
NM_000527.5:c.2350C>T MANE Select	NP_000518.1:p.Pro784Ser
NM_001195798.2:c.2350C>T	NP_001182727.1:p.Pro784Ser
NM_001195799.2:c.2227C>T	NP_001182728.1:p.Pro743Ser
NM_001195800.2:c.1846C>T	NP_001182729.1:p.Pro616Ser
NM_001195803.2:c.1816C>T	NP_001182732.1:p.Pro606Ser