Canonical Allele Identifier: CA645373239

Gene: LDLR

Linked Data

• ClinVar Variation Id: 430800
• ClinVar RCV Id: RCV000495898

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[11120225A>C;11128055G>A] , CM000681.2:g.[11120225A>C;11128055G>A]	GRCh38
NC_000019.9:g.[11230901A>C;11238731G>A] , CM000681.1:g.[11230901A>C;11238731G>A]	GRCh37
NC_000019.8:g.[11091901A>C;11099731G>A]	NCBI36
NG_009060.1:g.[35845A>C;43675G>A] , LRG_274:g.[35845A>C;43675G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.[2237A>C;2617G>A]	ENSP00000252444.6:p.[Gln746Pro;Val873Met]...
ENST00000559340.2:c.[*48A>C;*428G>A]	ENSP00000453696.2:n.[*48A>C;*428G>A]
ENST00000560467.2:c.[1859A>C;2239G>A]	ENSP00000453513.2:p.[Gln620Pro;Val747Met]...
ENST00000558518.6:c.[1979A>C;2359G>A] MANE Select	ENSP00000454071.1:p.[Gln660Pro;Val787Met]...
ENST00000252444.9:c.[2233A>C;2613G>A]
ENST00000455727.6:c.[1475A>C;1855G>A]	ENSP00000397829.2:p.[Gln492Pro;Val619Met]...
ENST00000535915.5:c.[1856A>C;2236G>A]	ENSP00000440520.1:p.[Gln619Pro;Val746Met]...
ENST00000545707.5:c.[1598A>C;1825G>A]	ENSP00000437639.1:p.[Gln533Pro;Val609Met]...
ENST00000557933.5:c.[1979A>C;2359G>A]	ENSP00000453557.1:p.[Gln660Pro;Val787Met]...
ENST00000558013.5:c.[1979A>C;2359G>A]	ENSP00000453346.1:p.[Gln660Pro;Val787Met]...
ENST00000558518.5:c.[1979A>C;2359G>A]	ENSP00000454071.1:p.[Gln660Pro;Val787Met]...
NM_000527.4:c.[1979A>C;2359G>A] , LRG_274t1:c.[1979A>C;2359G>A]	NP_000518.1:p.[Gln660Pro;Val787Met]
NM_001195798.1:c.[1979A>C;2359G>A]	NP_001182727.1:p.[Gln660Pro;Val787Met]
NM_001195799.1:c.[1856A>C;2236G>A]	NP_001182728.1:p.[Gln619Pro;Val746Met]
NM_001195800.1:c.[1475A>C;1855G>A]	NP_001182729.1:p.[Gln492Pro;Val619Met]
NM_001195803.1:c.[1598A>C;1825G>A]	NP_001182732.1:p.[Gln533Pro;Val609Met]
XM_011528010.1:c.[1979A>C;2312-1458G>A]	XP_011526312.1:p.Gln660Pro
XM_011528011.1:c.[1598A>C;1978G>A]	XP_011526313.1:p.[Gln533Pro;Val660Met]
XR_244074.2:n.[1989A>C;2369G>A]
XM_011528010.2:c.[1979A>C;2312-1458G>A]	XP_011526312.1:p.Gln660Pro
XR_001753685.2:n.[2096A>C;2693G>A]
XR_001753686.2:n.[1956A>C;2336G>A]
NM_000527.5:c.[1979A>C;2359G>A] MANE Select	NP_000518.1:p.[Gln660Pro;Val787Met]
NM_001195798.2:c.[1979A>C;2359G>A]	NP_001182727.1:p.[Gln660Pro;Val787Met]
NM_001195799.2:c.[1856A>C;2236G>A]	NP_001182728.1:p.[Gln619Pro;Val746Met]
NM_001195800.2:c.[1475A>C;1855G>A]	NP_001182729.1:p.[Gln492Pro;Val619Met]
NM_001195803.2:c.[1598A>C;1825G>A]	NP_001182732.1:p.[Gln533Pro;Val609Met]