Canonical Allele Identifier: CA404093955

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120501-G-C
• MyVariant Identifiers: chr19:g.11231177G>C (hg19) ; chr19:g.11120501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120501G>C , CM000681.2:g.11120501G>C	GRCh38
NC_000019.9:g.11231177G>C , CM000681.1:g.11231177G>C	GRCh37
NC_000019.8:g.11092177G>C	NCBI36
NG_009060.1:g.36121G>C , LRG_274:g.36121G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2377G>C	ENSP00000252444.6:p.Asp793His
ENST00000559340.2:c.*188G>C	ENSP00000453696.2:n.*188G>C
ENST00000560467.2:c.1999G>C	ENSP00000453513.2:p.Asp667His
ENST00000558518.6:c.2119G>C MANE Select	ENSP00000454071.1:p.Asp707His
ENST00000252444.9:c.2373G>C
ENST00000455727.6:c.1615G>C	ENSP00000397829.2:p.Asp539His
ENST00000535915.5:c.1996G>C	ENSP00000440520.1:p.Asp666His
ENST00000545707.5:c.1606+268G>C	ENSP00000437639.1:n.1606+268G>C
ENST00000557933.5:c.2119G>C	ENSP00000453557.1:p.Asp707His
ENST00000558013.5:c.2119G>C	ENSP00000453346.1:p.Asp707His
ENST00000558518.5:c.2119G>C	ENSP00000454071.1:p.Asp707His
NM_000527.4:c.2119G>C , LRG_274t1:c.2119G>C	NP_000518.1:p.Asp707His
NM_001195798.1:c.2119G>C	NP_001182727.1:p.Asp707His
NM_001195799.1:c.1996G>C	NP_001182728.1:p.Asp666His
NM_001195800.1:c.1615G>C	NP_001182729.1:p.Asp539His
NM_001195803.1:c.1606+268G>C	NP_001182732.1:n.1606+268G>C
XM_011528010.1:c.2119G>C	XP_011526312.1:p.Asp707His
XM_011528011.1:c.1738G>C	XP_011526313.1:p.Asp580His
XR_244074.2:n.2129G>C
XM_011528010.2:c.2119G>C	XP_011526312.1:p.Asp707His
XR_001753685.2:n.2236G>C
XR_001753686.2:n.2096G>C
NM_000527.5:c.2119G>C MANE Select	NP_000518.1:p.Asp707His
NM_001195798.2:c.2119G>C	NP_001182727.1:p.Asp707His
NM_001195799.2:c.1996G>C	NP_001182728.1:p.Asp666His
NM_001195800.2:c.1615G>C	NP_001182729.1:p.Asp539His
NM_001195803.2:c.1606+268G>C	NP_001182732.1:n.1606+268G>C