Canonical Allele Identifier: CA404092852

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11230832C>T (hg19) ; chr19:g.11120156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120156C>T , CM000681.2:g.11120156C>T	GRCh38
NC_000019.9:g.11230832C>T , CM000681.1:g.11230832C>T	GRCh37
NC_000019.8:g.11091832C>T	NCBI36
NG_009060.1:g.35776C>T , LRG_274:g.35776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2168C>T	ENSP00000252444.6:p.Ser723Phe
ENST00000559340.2:c.1770C>T	ENSP00000453696.2:p.Phe590=
ENST00000560467.2:c.1790C>T	ENSP00000453513.2:p.Ser597Phe
ENST00000558518.6:c.1910C>T MANE Select	ENSP00000454071.1:p.Ser637Phe
ENST00000252444.9:c.2164C>T
ENST00000455727.6:c.1406C>T	ENSP00000397829.2:p.Ser469Phe
ENST00000535915.5:c.1787C>T	ENSP00000440520.1:p.Ser596Phe
ENST00000545707.5:c.1529C>T	ENSP00000437639.1:p.Ser510Phe
ENST00000557933.5:c.1910C>T	ENSP00000453557.1:p.Ser637Phe
ENST00000558013.5:c.1910C>T	ENSP00000453346.1:p.Ser637Phe
ENST00000558518.5:c.1910C>T	ENSP00000454071.1:p.Ser637Phe
ENST00000559340.1:c.491C>T
NM_000527.4:c.1910C>T , LRG_274t1:c.1910C>T	NP_000518.1:p.Ser637Phe
NM_001195798.1:c.1910C>T	NP_001182727.1:p.Ser637Phe
NM_001195799.1:c.1787C>T	NP_001182728.1:p.Ser596Phe
NM_001195800.1:c.1406C>T	NP_001182729.1:p.Ser469Phe
NM_001195803.1:c.1529C>T	NP_001182732.1:p.Ser510Phe
XM_011528010.1:c.1910C>T	XP_011526312.1:p.Ser637Phe
XM_011528011.1:c.1529C>T	XP_011526313.1:p.Ser510Phe
XR_244074.2:n.1920C>T
XM_011528010.2:c.1910C>T	XP_011526312.1:p.Ser637Phe
XR_001753685.2:n.2027C>T
XR_001753686.2:n.1887C>T
NM_000527.5:c.1910C>T MANE Select	NP_000518.1:p.Ser637Phe
NM_001195798.2:c.1910C>T	NP_001182727.1:p.Ser637Phe
NM_001195799.2:c.1787C>T	NP_001182728.1:p.Ser596Phe
NM_001195800.2:c.1406C>T	NP_001182729.1:p.Ser469Phe
NM_001195803.2:c.1529C>T	NP_001182732.1:p.Ser510Phe