Canonical Allele Identifier: CA404085135

Gene: LDLR

Linked Data

• dbSNP Id: rs2077410966
• gnomAD v3: 19-11113404-G-T
• gnomAD v4: 19-11113404-G-T
• MyVariant Identifiers: chr19:g.11224080G>T (hg19) ; chr19:g.11113404G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113404G>T , CM000681.2:g.11113404G>T	GRCh38
NC_000019.9:g.11224080G>T , CM000681.1:g.11224080G>T	GRCh37
NC_000019.8:g.11085080G>T	NCBI36
NG_009060.1:g.29024G>T , LRG_274:g.29024G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1571G>T	ENSP00000252444.6:p.Ser524Ile
ENST00000559340.2:c.1313G>T	ENSP00000453696.2:p.Ser438Ile
ENST00000560467.2:c.1193G>T	ENSP00000453513.2:p.Ser398Ile
ENST00000558518.6:c.1313G>T MANE Select	ENSP00000454071.1:p.Ser438Ile
ENST00000252444.9:c.1567G>T
ENST00000455727.6:c.809G>T	ENSP00000397829.2:p.Ser270Ile
ENST00000535915.5:c.1190G>T	ENSP00000440520.1:p.Ser397Ile
ENST00000545707.5:c.932G>T	ENSP00000437639.1:p.Ser311Ile
ENST00000557933.5:c.1313G>T	ENSP00000453557.1:p.Ser438Ile
ENST00000558013.5:c.1313G>T	ENSP00000453346.1:p.Ser438Ile
ENST00000558518.5:c.1313G>T	ENSP00000454071.1:p.Ser438Ile
ENST00000559340.1:c.34G>T
ENST00000560173.1:n.312G>T
ENST00000560467.1:c.793G>T
NM_000527.4:c.1313G>T , LRG_274t1:c.1313G>T	NP_000518.1:p.Ser438Ile
NM_001195798.1:c.1313G>T	NP_001182727.1:p.Ser438Ile
NM_001195799.1:c.1190G>T	NP_001182728.1:p.Ser397Ile
NM_001195800.1:c.809G>T	NP_001182729.1:p.Ser270Ile
NM_001195803.1:c.932G>T	NP_001182732.1:p.Ser311Ile
XM_011528010.1:c.1313G>T	XP_011526312.1:p.Ser438Ile
XM_011528011.1:c.932G>T	XP_011526313.1:p.Ser311Ile
XR_244074.2:n.1463G>T
XM_011528010.2:c.1313G>T	XP_011526312.1:p.Ser438Ile
XR_001753685.2:n.1430G>T
XR_001753686.2:n.1430G>T
NM_000527.5:c.1313G>T MANE Select	NP_000518.1:p.Ser438Ile
NM_001195798.2:c.1313G>T	NP_001182727.1:p.Ser438Ile
NM_001195799.2:c.1190G>T	NP_001182728.1:p.Ser397Ile
NM_001195800.2:c.809G>T	NP_001182729.1:p.Ser270Ile
NM_001195803.2:c.932G>T	NP_001182732.1:p.Ser311Ile