Canonical Allele Identifier: CA404092356

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11230775T>C (hg19) ; chr19:g.11120099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120099T>C , CM000681.2:g.11120099T>C	GRCh38
NC_000019.9:g.11230775T>C , CM000681.1:g.11230775T>C	GRCh37
NC_000019.8:g.11091775T>C	NCBI36
NG_009060.1:g.35719T>C , LRG_274:g.35719T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2111T>C	ENSP00000252444.6:p.Val704Ala
ENST00000559340.2:c.1713T>C	ENSP00000453696.2:p.Ser571=
ENST00000560467.2:c.1733T>C	ENSP00000453513.2:p.Val578Ala
ENST00000558518.6:c.1853T>C MANE Select	ENSP00000454071.1:p.Val618Ala
ENST00000252444.9:c.2107T>C
ENST00000455727.6:c.1349T>C	ENSP00000397829.2:p.Val450Ala
ENST00000535915.5:c.1730T>C	ENSP00000440520.1:p.Val577Ala
ENST00000545707.5:c.1472T>C	ENSP00000437639.1:p.Val491Ala
ENST00000557933.5:c.1853T>C	ENSP00000453557.1:p.Val618Ala
ENST00000558013.5:c.1853T>C	ENSP00000453346.1:p.Val618Ala
ENST00000558518.5:c.1853T>C	ENSP00000454071.1:p.Val618Ala
ENST00000559340.1:c.434T>C
NM_000527.4:c.1853T>C , LRG_274t1:c.1853T>C	NP_000518.1:p.Val618Ala
NM_001195798.1:c.1853T>C	NP_001182727.1:p.Val618Ala
NM_001195799.1:c.1730T>C	NP_001182728.1:p.Val577Ala
NM_001195800.1:c.1349T>C	NP_001182729.1:p.Val450Ala
NM_001195803.1:c.1472T>C	NP_001182732.1:p.Val491Ala
XM_011528010.1:c.1853T>C	XP_011526312.1:p.Val618Ala
XM_011528011.1:c.1472T>C	XP_011526313.1:p.Val491Ala
XR_244074.2:n.1863T>C
XM_011528010.2:c.1853T>C	XP_011526312.1:p.Val618Ala
XR_001753685.2:n.1970T>C
XR_001753686.2:n.1830T>C
NM_000527.5:c.1853T>C MANE Select	NP_000518.1:p.Val618Ala
NM_001195798.2:c.1853T>C	NP_001182727.1:p.Val618Ala
NM_001195799.2:c.1730T>C	NP_001182728.1:p.Val577Ala
NM_001195800.2:c.1349T>C	NP_001182729.1:p.Val450Ala
NM_001195803.2:c.1472T>C	NP_001182732.1:p.Val491Ala