Canonical Allele Identifier: CA2573054705

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1334399
• ClinVar RCV Id: RCV001813913
• dbSNP Id: rs2147265977

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120404dup , CM000681.2:g.11120404dup	GRCh38
NC_000019.9:g.11231080dup , CM000681.1:g.11231080dup	GRCh37
NC_000019.8:g.11092080dup	NCBI36
NG_009060.1:g.36024dup , LRG_274:g.36024dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2280dup	ENSP00000252444.6:p.Gly761TrpfsTer?
ENST00000559340.2:c.*91dup	ENSP00000453696.2:n.*91dup
ENST00000560467.2:c.1902dup	ENSP00000453513.2:p.Gly635TrpfsTer?
ENST00000558518.6:c.2022dup MANE Select	ENSP00000454071.1:p.Gly675TrpfsTer?
ENST00000252444.9:c.2276dup
ENST00000455727.6:c.1518dup	ENSP00000397829.2:p.Gly507TrpfsTer?
ENST00000535915.5:c.1899dup	ENSP00000440520.1:p.Gly634TrpfsTer?
ENST00000545707.5:c.1606+171dup	ENSP00000437639.1:n.1606+171dup
ENST00000557933.5:c.2022dup	ENSP00000453557.1:p.Gly675TrpfsTer?
ENST00000558013.5:c.2022dup	ENSP00000453346.1:p.Gly675TrpfsTer?
ENST00000558518.5:c.2022dup	ENSP00000454071.1:p.Gly675TrpfsTer?
ENST00000559340.1:c.603dup
NM_000527.4:c.2022dup , LRG_274t1:c.2022dup	NP_000518.1:p.Gly675TrpfsTer?
NM_001195798.1:c.2022dup	NP_001182727.1:p.Gly675TrpfsTer?
NM_001195799.1:c.1899dup	NP_001182728.1:p.Gly634TrpfsTer?
NM_001195800.1:c.1518dup	NP_001182729.1:p.Gly507TrpfsTer?
NM_001195803.1:c.1606+171dup	NP_001182732.1:n.1606+171dup
XM_011528010.1:c.2022dup	XP_011526312.1:p.Gly675TrpfsTer?
XM_011528011.1:c.1641dup	XP_011526313.1:p.Gly548TrpfsTer?
XR_244074.2:n.2032dup
XM_011528010.2:c.2022dup	XP_011526312.1:p.Gly675TrpfsTer?
XR_001753685.2:n.2139dup
XR_001753686.2:n.1999dup
NM_000527.5:c.2022dup MANE Select	NP_000518.1:p.Gly675TrpfsTer?
NM_001195798.2:c.2022dup	NP_001182727.1:p.Gly675TrpfsTer?
NM_001195799.2:c.1899dup	NP_001182728.1:p.Gly634TrpfsTer?
NM_001195800.2:c.1518dup	NP_001182729.1:p.Gly507TrpfsTer?
NM_001195803.2:c.1606+171dup	NP_001182732.1:n.1606+171dup