Canonical Allele Identifier: CA404094777

Gene: LDLR

Linked Data

• gnomAD v4: 19-11123185-G-T
• COSMIC: COSM4580609
• MyVariant Identifiers: chr19:g.11233861G>T (hg19) ; chr19:g.11123185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123185G>T , CM000681.2:g.11123185G>T	GRCh38
NC_000019.9:g.11233861G>T , CM000681.1:g.11233861G>T	GRCh37
NC_000019.8:g.11094861G>T	NCBI36
NG_009060.1:g.38805G>T , LRG_274:g.38805G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2410G>T	ENSP00000252444.6:p.Ala804Ser
ENST00000559340.2:c.*221G>T	ENSP00000453696.2:n.*221G>T
ENST00000560467.2:c.2032G>T	ENSP00000453513.2:p.Ala678Ser
ENST00000558518.6:c.2152G>T MANE Select	ENSP00000454071.1:p.Ala718Ser
ENST00000252444.9:c.2406G>T
ENST00000455727.6:c.1648G>T	ENSP00000397829.2:p.Ala550Ser
ENST00000535915.5:c.2029G>T	ENSP00000440520.1:p.Ala677Ser
ENST00000545707.5:c.1618G>T	ENSP00000437639.1:p.Ala540Ser
ENST00000557933.5:c.2152G>T	ENSP00000453557.1:p.Ala718Ser
ENST00000558013.5:c.2152G>T	ENSP00000453346.1:p.Ala718Ser
ENST00000558518.5:c.2152G>T	ENSP00000454071.1:p.Ala718Ser
NM_000527.4:c.2152G>T , LRG_274t1:c.2152G>T	NP_000518.1:p.Ala718Ser
NM_001195798.1:c.2152G>T	NP_001182727.1:p.Ala718Ser
NM_001195799.1:c.2029G>T	NP_001182728.1:p.Ala677Ser
NM_001195800.1:c.1648G>T	NP_001182729.1:p.Ala550Ser
NM_001195803.1:c.1618G>T	NP_001182732.1:p.Ala540Ser
XM_011528010.1:c.2152G>T	XP_011526312.1:p.Ala718Ser
XM_011528011.1:c.1771G>T	XP_011526313.1:p.Ala591Ser
XR_244074.2:n.2162G>T
XM_011528010.2:c.2152G>T	XP_011526312.1:p.Ala718Ser
XR_001753685.2:n.2486G>T
XR_001753686.2:n.2129G>T
NM_000527.5:c.2152G>T MANE Select	NP_000518.1:p.Ala718Ser
NM_001195798.2:c.2152G>T	NP_001182727.1:p.Ala718Ser
NM_001195799.2:c.2029G>T	NP_001182728.1:p.Ala677Ser
NM_001195800.2:c.1648G>T	NP_001182729.1:p.Ala550Ser
NM_001195803.2:c.1618G>T	NP_001182732.1:p.Ala540Ser