Canonical Allele Identifier: CA404093439

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11231056G>T (hg19) ; chr19:g.11120380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120380G>T , CM000681.2:g.11120380G>T	GRCh38
NC_000019.9:g.11231056G>T , CM000681.1:g.11231056G>T	GRCh37
NC_000019.8:g.11092056G>T	NCBI36
NG_009060.1:g.36000G>T , LRG_274:g.36000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2256G>T	ENSP00000252444.6:p.Trp752Cys
ENST00000559340.2:c.*67G>T	ENSP00000453696.2:n.*67G>T
ENST00000560467.2:c.1878G>T	ENSP00000453513.2:p.Trp626Cys
ENST00000558518.6:c.1998G>T MANE Select	ENSP00000454071.1:p.Trp666Cys
ENST00000252444.9:c.2252G>T
ENST00000455727.6:c.1494G>T	ENSP00000397829.2:p.Trp498Cys
ENST00000535915.5:c.1875G>T	ENSP00000440520.1:p.Trp625Cys
ENST00000545707.5:c.1606+147G>T	ENSP00000437639.1:n.1606+147G>T
ENST00000557933.5:c.1998G>T	ENSP00000453557.1:p.Trp666Cys
ENST00000558013.5:c.1998G>T	ENSP00000453346.1:p.Trp666Cys
ENST00000558518.5:c.1998G>T	ENSP00000454071.1:p.Trp666Cys
ENST00000559340.1:c.579G>T
NM_000527.4:c.1998G>T , LRG_274t1:c.1998G>T	NP_000518.1:p.Trp666Cys
NM_001195798.1:c.1998G>T	NP_001182727.1:p.Trp666Cys
NM_001195799.1:c.1875G>T	NP_001182728.1:p.Trp625Cys
NM_001195800.1:c.1494G>T	NP_001182729.1:p.Trp498Cys
NM_001195803.1:c.1606+147G>T	NP_001182732.1:n.1606+147G>T
XM_011528010.1:c.1998G>T	XP_011526312.1:p.Trp666Cys
XM_011528011.1:c.1617G>T	XP_011526313.1:p.Trp539Cys
XR_244074.2:n.2008G>T
XM_011528010.2:c.1998G>T	XP_011526312.1:p.Trp666Cys
XR_001753685.2:n.2115G>T
XR_001753686.2:n.1975G>T
NM_000527.5:c.1998G>T MANE Select	NP_000518.1:p.Trp666Cys
NM_001195798.2:c.1998G>T	NP_001182727.1:p.Trp666Cys
NM_001195799.2:c.1875G>T	NP_001182728.1:p.Trp625Cys
NM_001195800.2:c.1494G>T	NP_001182729.1:p.Trp498Cys
NM_001195803.2:c.1606+147G>T	NP_001182732.1:n.1606+147G>T