Canonical Allele Identifier: CA339076616

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 918122
• ClinVar RCV Id: RCV001175499
• dbSNP Id: rs2043858170
• MyVariant Identifiers: chr1:g.25870237C>G (hg19) ; chr1:g.25543746C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25543746C>G , CM000663.2:g.25543746C>G	GRCh38
NC_000001.10:g.25870237C>G , CM000663.1:g.25870237C>G	GRCh37
NC_000001.9:g.25742824C>G	NCBI36
NG_008932.1:g.5162C>G , LRG_276:g.5162C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.48C>G MANE Select	ENSP00000363458.4:p.Ser16Arg
ENST00000374338.4:c.48C>G	ENSP00000363458.4:p.Ser16Arg
NM_015627.2:c.48C>G , LRG_276t1:c.48C>G	NP_056442.2:p.Ser16Arg
XM_006710559.2:c.48C>G	XP_006710622.1:p.Ser16Arg
XM_006710560.2:c.48C>G	XP_006710623.1:p.Ser16Arg
XM_006710561.2:c.48C>G	XP_006710624.1:p.Ser16Arg
XM_011541209.1:c.48C>G	XP_011539511.1:p.Ser16Arg
XM_011541210.1:c.48C>G	XP_011539512.1:p.Ser16Arg
XM_011541211.1:c.48C>G	XP_011539513.1:p.Ser16Arg
XM_011541212.1:c.48C>G	XP_011539514.1:p.Ser16Arg
XR_426598.2:n.167C>G
XR_946602.1:n.167C>G
XR_946603.1:n.167C>G
XM_006710559.4:c.48C>G	XP_006710622.1:p.Ser16Arg
XM_006710560.4:c.48C>G	XP_006710623.1:p.Ser16Arg
XM_006710561.4:c.48C>G	XP_006710624.1:p.Ser16Arg
XM_011541209.3:c.48C>G	XP_011539511.1:p.Ser16Arg
XM_011541210.3:c.48C>G	XP_011539512.1:p.Ser16Arg
XM_011541211.3:c.48C>G	XP_011539513.1:p.Ser16Arg
XM_011541212.3:c.48C>G	XP_011539514.1:p.Ser16Arg
XM_017000995.2:c.48C>G	XP_016856484.1:p.Ser16Arg
XR_001737112.2:n.118C>G
XR_001737113.2:n.118C>G
XR_002956258.1:n.118C>G
XR_426598.4:n.118C>G
XR_946602.3:n.118C>G
XR_946603.3:n.118C>G
NM_015627.3:c.48C>G MANE Select	NP_056442.2:p.Ser16Arg