Canonical Allele Identifier: CA2322775616

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120458C= , CM000681.2:g.11120458C=	GRCh38
NC_000019.9:g.11231134C= , CM000681.1:g.11231134C=	GRCh37
NC_000019.8:g.11092134C=	NCBI36
NG_009060.1:g.36078C= , LRG_274:g.36078C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2334C=	ENSP00000252444.6:p.Pro778=
ENST00000559340.2:c.*145C=	ENSP00000453696.2:n.*145C=
ENST00000560467.2:c.1956C=	ENSP00000453513.2:p.Pro652=
ENST00000558518.6:c.2076C= MANE Select	ENSP00000454071.1:p.Pro692=
ENST00000252444.9:c.2330C=
ENST00000455727.6:c.1572C=	ENSP00000397829.2:p.Pro524=
ENST00000535915.5:c.1953C=	ENSP00000440520.1:p.Pro651=
ENST00000545707.5:c.1606+225C=	ENSP00000437639.1:n.1606+225C=
ENST00000557933.5:c.2076C=	ENSP00000453557.1:p.Pro692=
ENST00000558013.5:c.2076C=	ENSP00000453346.1:p.Pro692=
ENST00000558518.5:c.2076C=	ENSP00000454071.1:p.Pro692=
NM_000527.4:c.2076C= , LRG_274t1:c.2076C=	NP_000518.1:p.Pro692=
NM_001195798.1:c.2076C=	NP_001182727.1:p.Pro692=
NM_001195799.1:c.1953C=	NP_001182728.1:p.Pro651=
NM_001195800.1:c.1572C=	NP_001182729.1:p.Pro524=
NM_001195803.1:c.1606+225C=	NP_001182732.1:n.1606+225C=
XM_011528010.1:c.2076C=	XP_011526312.1:p.Pro692=
XM_011528011.1:c.1695C=	XP_011526313.1:p.Pro565=
XR_244074.2:n.2086C=
XM_011528010.2:c.2076C=	XP_011526312.1:p.Pro692=
XR_001753685.2:n.2193C=
XR_001753686.2:n.2053C=
NM_000527.5:c.2076C= MANE Select	NP_000518.1:p.Pro692=
NM_001195798.2:c.2076C=	NP_001182727.1:p.Pro692=
NM_001195799.2:c.1953C=	NP_001182728.1:p.Pro651=
NM_001195800.2:c.1572C=	NP_001182729.1:p.Pro524=
NM_001195803.2:c.1606+225C=	NP_001182732.1:n.1606+225C=