Canonical Allele Identifier: CA404084654

Gene: LDLR

Linked Data

• ClinVar Variation Id: 924165
• ClinVar RCV Id: RCV001185364 ; RCV002484013
• dbSNP Id: rs766474188
• gnomAD v4: 19-11113278-G-T
• MyVariant Identifiers: chr19:g.11223954G>T (hg19) ; chr19:g.11113278G>T (hg38)
• ERepo: CA404084654/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113278G>T , CM000681.2:g.11113278G>T	GRCh38
NC_000019.9:g.11223954G>T , CM000681.1:g.11223954G>T	GRCh37
NC_000019.8:g.11084954G>T	NCBI36
NG_009060.1:g.28898G>T , LRG_274:g.28898G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1445G>T	ENSP00000252444.6:p.Gly482Val
ENST00000559340.2:c.1187G>T	ENSP00000453696.2:p.Gly396Val
ENST00000560467.2:c.1067G>T	ENSP00000453513.2:p.Gly356Val
ENST00000558518.6:c.1187G>T MANE Select	ENSP00000454071.1:p.Gly396Val
ENST00000252444.9:c.1441G>T
ENST00000455727.6:c.683G>T	ENSP00000397829.2:p.Gly228Val
ENST00000535915.5:c.1064G>T	ENSP00000440520.1:p.Gly355Val
ENST00000545707.5:c.806G>T	ENSP00000437639.1:p.Gly269Val
ENST00000557933.5:c.1187G>T	ENSP00000453557.1:p.Gly396Val
ENST00000558013.5:c.1187G>T	ENSP00000453346.1:p.Gly396Val
ENST00000558518.5:c.1187G>T	ENSP00000454071.1:p.Gly396Val
ENST00000560173.1:n.186G>T
ENST00000560467.1:c.667G>T
NM_000527.4:c.1187G>T , LRG_274t1:c.1187G>T	NP_000518.1:p.Gly396Val
NM_001195798.1:c.1187G>T	NP_001182727.1:p.Gly396Val
NM_001195799.1:c.1064G>T	NP_001182728.1:p.Gly355Val
NM_001195800.1:c.683G>T	NP_001182729.1:p.Gly228Val
NM_001195803.1:c.806G>T	NP_001182732.1:p.Gly269Val
XM_011528010.1:c.1187G>T	XP_011526312.1:p.Gly396Val
XM_011528011.1:c.806G>T	XP_011526313.1:p.Gly269Val
XR_244074.2:n.1337G>T
XM_011528010.2:c.1187G>T	XP_011526312.1:p.Gly396Val
XR_001753685.2:n.1304G>T
XR_001753686.2:n.1304G>T
NM_000527.5:c.1187G>T MANE Select	NP_000518.1:p.Gly396Val
NM_001195798.2:c.1187G>T	NP_001182727.1:p.Gly396Val
NM_001195799.2:c.1064G>T	NP_001182728.1:p.Gly355Val
NM_001195800.2:c.683G>T	NP_001182729.1:p.Gly228Val
NM_001195803.2:c.806G>T	NP_001182732.1:p.Gly269Val