Canonical Allele Identifier: CA505743473

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1144680
• ClinVar RCV Id: RCV001483231
• dbSNP Id: rs1344440347
• gnomAD v2: 19-11231077-C-T
• gnomAD v4: 19-11120401-C-T
• MyVariant Identifiers: chr19:g.11231077C>T (hg19) ; chr19:g.11120401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120401C>T , CM000681.2:g.11120401C>T	GRCh38
NC_000019.9:g.11231077C>T , CM000681.1:g.11231077C>T	GRCh37
NC_000019.8:g.11092077C>T	NCBI36
NG_009060.1:g.36021C>T , LRG_274:g.36021C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2277C>T	ENSP00000252444.6:p.Ser759=
ENST00000559340.2:c.*88C>T	ENSP00000453696.2:n.*88C>T
ENST00000560467.2:c.1899C>T	ENSP00000453513.2:p.Ser633=
ENST00000558518.6:c.2019C>T MANE Select	ENSP00000454071.1:p.Ser673=
ENST00000252444.9:c.2273C>T
ENST00000455727.6:c.1515C>T	ENSP00000397829.2:p.Ser505=
ENST00000535915.5:c.1896C>T	ENSP00000440520.1:p.Ser632=
ENST00000545707.5:c.1606+168C>T	ENSP00000437639.1:n.1606+168C>T
ENST00000557933.5:c.2019C>T	ENSP00000453557.1:p.Ser673=
ENST00000558013.5:c.2019C>T	ENSP00000453346.1:p.Ser673=
ENST00000558518.5:c.2019C>T	ENSP00000454071.1:p.Ser673=
ENST00000559340.1:c.600C>T
NM_000527.4:c.2019C>T , LRG_274t1:c.2019C>T	NP_000518.1:p.Ser673=
NM_001195798.1:c.2019C>T	NP_001182727.1:p.Ser673=
NM_001195799.1:c.1896C>T	NP_001182728.1:p.Ser632=
NM_001195800.1:c.1515C>T	NP_001182729.1:p.Ser505=
NM_001195803.1:c.1606+168C>T	NP_001182732.1:n.1606+168C>T
XM_011528010.1:c.2019C>T	XP_011526312.1:p.Ser673=
XM_011528011.1:c.1638C>T	XP_011526313.1:p.Ser546=
XR_244074.2:n.2029C>T
XM_011528010.2:c.2019C>T	XP_011526312.1:p.Ser673=
XR_001753685.2:n.2136C>T
XR_001753686.2:n.1996C>T
NM_000527.5:c.2019C>T MANE Select	NP_000518.1:p.Ser673=
NM_001195798.2:c.2019C>T	NP_001182727.1:p.Ser673=
NM_001195799.2:c.1896C>T	NP_001182728.1:p.Ser632=
NM_001195800.2:c.1515C>T	NP_001182729.1:p.Ser505=
NM_001195803.2:c.1606+168C>T	NP_001182732.1:n.1606+168C>T