Canonical Allele Identifier: CA10609981

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 296972
• ClinVar RCV Id: RCV000305568 ; RCV002365343
• dbSNP Id: rs1057515535
• gnomAD v4: 1-25543762-T-C
• MyVariant Identifiers: chr1:g.25870253T>C (hg19) ; chr1:g.25543762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25543762T>C , CM000663.2:g.25543762T>C	GRCh38
NC_000001.10:g.25870253T>C , CM000663.1:g.25870253T>C	GRCh37
NC_000001.9:g.25742840T>C	NCBI36
NG_008932.1:g.5178T>C , LRG_276:g.5178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.64T>C MANE Select	ENSP00000363458.4:p.Trp22Arg
ENST00000374338.4:c.64T>C	ENSP00000363458.4:p.Trp22Arg
NM_015627.2:c.64T>C , LRG_276t1:c.64T>C	NP_056442.2:p.Trp22Arg
XM_006710559.2:c.64T>C	XP_006710622.1:p.Trp22Arg
XM_006710560.2:c.64T>C	XP_006710623.1:p.Trp22Arg
XM_006710561.2:c.64T>C	XP_006710624.1:p.Trp22Arg
XM_011541209.1:c.64T>C	XP_011539511.1:p.Trp22Arg
XM_011541210.1:c.64T>C	XP_011539512.1:p.Trp22Arg
XM_011541211.1:c.64T>C	XP_011539513.1:p.Trp22Arg
XM_011541212.1:c.64T>C	XP_011539514.1:p.Trp22Arg
XR_426598.2:n.183T>C
XR_946602.1:n.183T>C
XR_946603.1:n.183T>C
XM_006710559.4:c.64T>C	XP_006710622.1:p.Trp22Arg
XM_006710560.4:c.64T>C	XP_006710623.1:p.Trp22Arg
XM_006710561.4:c.64T>C	XP_006710624.1:p.Trp22Arg
XM_011541209.3:c.64T>C	XP_011539511.1:p.Trp22Arg
XM_011541210.3:c.64T>C	XP_011539512.1:p.Trp22Arg
XM_011541211.3:c.64T>C	XP_011539513.1:p.Trp22Arg
XM_011541212.3:c.64T>C	XP_011539514.1:p.Trp22Arg
XM_017000995.2:c.64T>C	XP_016856484.1:p.Trp22Arg
XR_001737112.2:n.134T>C
XR_001737113.2:n.134T>C
XR_002956258.1:n.134T>C
XR_426598.4:n.134T>C
XR_946602.3:n.134T>C
XR_946603.3:n.134T>C
NM_015627.3:c.64T>C MANE Select	NP_056442.2:p.Trp22Arg