Canonical Allele Identifier: CA2322773660

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116886T= , CM000681.2:g.11116886T=	GRCh38
NC_000019.9:g.11227562T= , CM000681.1:g.11227562T=	GRCh37
NC_000019.8:g.11088562T=	NCBI36
NG_009060.1:g.32506T= , LRG_274:g.32506T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1991T=	ENSP00000252444.6:p.Val664=
ENST00000559340.2:c.1705+674T=	ENSP00000453696.2:n.1705+674T=
ENST00000560467.2:c.1613T=	ENSP00000453513.2:p.Val538=
ENST00000558518.6:c.1733T= MANE Select	ENSP00000454071.1:p.Val578=
ENST00000252444.9:c.1987T=
ENST00000455727.6:c.1229T=	ENSP00000397829.2:p.Val410=
ENST00000535915.5:c.1610T=	ENSP00000440520.1:p.Val537=
ENST00000545707.5:c.1352T=	ENSP00000437639.1:p.Val451=
ENST00000557933.5:c.1733T=	ENSP00000453557.1:p.Val578=
ENST00000558013.5:c.1733T=	ENSP00000453346.1:p.Val578=
ENST00000558518.5:c.1733T=	ENSP00000454071.1:p.Val578=
ENST00000559340.1:c.426+674T=
NM_000527.4:c.1733T= , LRG_274t1:c.1733T=	NP_000518.1:p.Val578=
NM_001195798.1:c.1733T=	NP_001182727.1:p.Val578=
NM_001195799.1:c.1610T=	NP_001182728.1:p.Val537=
NM_001195800.1:c.1229T=	NP_001182729.1:p.Val410=
NM_001195803.1:c.1352T=	NP_001182732.1:p.Val451=
XM_011528010.1:c.1733T=	XP_011526312.1:p.Val578=
XM_011528011.1:c.1352T=	XP_011526313.1:p.Val451=
XR_244074.2:n.1855+674T=
XM_011528010.2:c.1733T=	XP_011526312.1:p.Val578=
XR_001753685.2:n.1850T=
XR_001753686.2:n.1822+674T=
NM_000527.5:c.1733T= MANE Select	NP_000518.1:p.Val578=
NM_001195798.2:c.1733T=	NP_001182727.1:p.Val578=
NM_001195799.2:c.1610T=	NP_001182728.1:p.Val537=
NM_001195800.2:c.1229T=	NP_001182729.1:p.Val410=
NM_001195803.2:c.1352T=	NP_001182732.1:p.Val451=