Canonical Allele Identifier: CA695535

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 1736405
• ClinVar RCV Id: RCV002357602
• dbSNP Id: rs750080972
• ExAC: 1:25883693 A / G
• gnomAD v2: 1-25883693-A-G
• gnomAD v3: 1-25557202-A-G
• gnomAD v4: 1-25557202-A-G
• MyVariant Identifiers: chr1:g.25883693A>G (hg19) ; chr1:g.25557202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557202A>G , CM000663.2:g.25557202A>G	GRCh38
NC_000001.10:g.25883693A>G , CM000663.1:g.25883693A>G	GRCh37
NC_000001.9:g.25756280A>G	NCBI36
NG_008932.1:g.18618A>G , LRG_276:g.18618A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.394A>G MANE Select	ENSP00000363458.4:p.Ile132Val
ENST00000374338.4:c.394A>G	ENSP00000363458.4:p.Ile132Val
ENST00000462394.1:n.142A>G
ENST00000488127.1:n.864A>G
NM_015627.2:c.394A>G , LRG_276t1:c.394A>G	NP_056442.2:p.Ile132Val
XM_006710559.2:c.394A>G	XP_006710622.1:p.Ile132Val
XM_006710560.2:c.394A>G	XP_006710623.1:p.Ile132Val
XM_006710561.2:c.394A>G	XP_006710624.1:p.Ile132Val
XM_011541209.1:c.394A>G	XP_011539511.1:p.Ile132Val
XM_011541210.1:c.394A>G	XP_011539512.1:p.Ile132Val
XM_011541211.1:c.394A>G	XP_011539513.1:p.Ile132Val
XM_011541212.1:c.394A>G	XP_011539514.1:p.Ile132Val
XR_426598.2:n.513A>G
XR_946602.1:n.513A>G
XR_946603.1:n.513A>G
XM_006710559.4:c.394A>G	XP_006710622.1:p.Ile132Val
XM_006710560.4:c.394A>G	XP_006710623.1:p.Ile132Val
XM_006710561.4:c.394A>G	XP_006710624.1:p.Ile132Val
XM_011541209.3:c.394A>G	XP_011539511.1:p.Ile132Val
XM_011541210.3:c.394A>G	XP_011539512.1:p.Ile132Val
XM_011541211.3:c.394A>G	XP_011539513.1:p.Ile132Val
XM_011541212.3:c.394A>G	XP_011539514.1:p.Ile132Val
XM_017000994.2:c.313A>G	XP_016856483.1:p.Ile105Val
XM_017000995.2:c.394A>G	XP_016856484.1:p.Ile132Val
XM_024446315.1:c.259A>G	XP_024302083.1:p.Ile87Val
XR_001737112.2:n.464A>G
XR_001737113.2:n.464A>G
XR_002956258.1:n.464A>G
XR_426598.4:n.464A>G
XR_946602.3:n.464A>G
XR_946603.3:n.464A>G
NM_015627.3:c.394A>G MANE Select	NP_056442.2:p.Ile132Val