Canonical Allele Identifier: CA416742342

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 1135309
• ClinVar RCV Id: RCV001470513 ; RCV002329561
• dbSNP Id: rs140170877
• gnomAD v4: 1-25557231-C-G
• MyVariant Identifiers: chr1:g.25883722C>G (hg19) ; chr1:g.25557231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557231C>G , CM000663.2:g.25557231C>G	GRCh38
NC_000001.10:g.25883722C>G , CM000663.1:g.25883722C>G	GRCh37
NC_000001.9:g.25756309C>G	NCBI36
NG_008932.1:g.18647C>G , LRG_276:g.18647C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.423C>G MANE Select	ENSP00000363458.4:p.Leu141=
ENST00000374338.4:c.423C>G	ENSP00000363458.4:p.Leu141=
ENST00000462394.1:n.171C>G
ENST00000488127.1:n.893C>G
NM_015627.2:c.423C>G , LRG_276t1:c.423C>G	NP_056442.2:p.Leu141=
XM_006710559.2:c.423C>G	XP_006710622.1:p.Leu141=
XM_006710560.2:c.423C>G	XP_006710623.1:p.Leu141=
XM_006710561.2:c.423C>G	XP_006710624.1:p.Leu141=
XM_011541209.1:c.423C>G	XP_011539511.1:p.Leu141=
XM_011541210.1:c.423C>G	XP_011539512.1:p.Leu141=
XM_011541211.1:c.423C>G	XP_011539513.1:p.Leu141=
XM_011541212.1:c.423C>G	XP_011539514.1:p.Leu141=
XR_426598.2:n.542C>G
XR_946602.1:n.542C>G
XR_946603.1:n.542C>G
XM_006710559.4:c.423C>G	XP_006710622.1:p.Leu141=
XM_006710560.4:c.423C>G	XP_006710623.1:p.Leu141=
XM_006710561.4:c.423C>G	XP_006710624.1:p.Leu141=
XM_011541209.3:c.423C>G	XP_011539511.1:p.Leu141=
XM_011541210.3:c.423C>G	XP_011539512.1:p.Leu141=
XM_011541211.3:c.423C>G	XP_011539513.1:p.Leu141=
XM_011541212.3:c.423C>G	XP_011539514.1:p.Leu141=
XM_017000994.2:c.342C>G	XP_016856483.1:p.Leu114=
XM_017000995.2:c.423C>G	XP_016856484.1:p.Leu141=
XM_024446315.1:c.288C>G	XP_024302083.1:p.Leu96=
XR_001737112.2:n.493C>G
XR_001737113.2:n.493C>G
XR_002956258.1:n.493C>G
XR_426598.4:n.493C>G
XR_946602.3:n.493C>G
XR_946603.3:n.493C>G
NM_015627.3:c.423C>G MANE Select	NP_056442.2:p.Leu141=