Canonical Allele Identifier: CA404083208

Gene: LDLR

Linked Data

• gnomAD v4: 19-11111534-C-A
• MyVariant Identifiers: chr19:g.11222210C>A (hg19) ; chr19:g.11111534C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111534C>A , CM000681.2:g.11111534C>A	GRCh38
NC_000019.9:g.11222210C>A , CM000681.1:g.11222210C>A	GRCh37
NC_000019.8:g.11083210C>A	NCBI36
NG_009060.1:g.27154C>A , LRG_274:g.27154C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1339C>A	ENSP00000252444.6:p.Pro447Thr
ENST00000559340.2:c.1081C>A	ENSP00000453696.2:p.Pro361Thr
ENST00000560467.2:c.961C>A	ENSP00000453513.2:p.Pro321Thr
ENST00000558518.6:c.1081C>A MANE Select	ENSP00000454071.1:p.Pro361Thr
ENST00000252444.9:c.1335C>A
ENST00000455727.6:c.577C>A	ENSP00000397829.2:p.Pro193Thr
ENST00000535915.5:c.958C>A	ENSP00000440520.1:p.Pro320Thr
ENST00000545707.5:c.700C>A	ENSP00000437639.1:p.Pro234Thr
ENST00000557933.5:c.1081C>A	ENSP00000453557.1:p.Pro361Thr
ENST00000558013.5:c.1081C>A	ENSP00000453346.1:p.Pro361Thr
ENST00000558518.5:c.1081C>A	ENSP00000454071.1:p.Pro361Thr
ENST00000560173.1:n.80C>A
ENST00000560467.1:c.561C>A
NM_000527.4:c.1081C>A , LRG_274t1:c.1081C>A	NP_000518.1:p.Pro361Thr
NM_001195798.1:c.1081C>A	NP_001182727.1:p.Pro361Thr
NM_001195799.1:c.958C>A	NP_001182728.1:p.Pro320Thr
NM_001195800.1:c.577C>A	NP_001182729.1:p.Pro193Thr
NM_001195803.1:c.700C>A	NP_001182732.1:p.Pro234Thr
XM_011528010.1:c.1081C>A	XP_011526312.1:p.Pro361Thr
XM_011528011.1:c.700C>A	XP_011526313.1:p.Pro234Thr
XR_244074.2:n.1231C>A
XM_011528010.2:c.1081C>A	XP_011526312.1:p.Pro361Thr
XR_001753685.2:n.1198C>A
XR_001753686.2:n.1198C>A
NM_000527.5:c.1081C>A MANE Select	NP_000518.1:p.Pro361Thr
NM_001195798.2:c.1081C>A	NP_001182727.1:p.Pro361Thr
NM_001195799.2:c.958C>A	NP_001182728.1:p.Pro320Thr
NM_001195800.2:c.577C>A	NP_001182729.1:p.Pro193Thr
NM_001195803.2:c.700C>A	NP_001182732.1:p.Pro234Thr