Canonical Allele Identifier: CA10609977

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 296971
• ClinVar RCV Id: RCV002338874
• dbSNP Id: rs1057515534
• gnomAD v2: 1-25870234-C-T
• gnomAD v4: 1-25543743-C-T
• MyVariant Identifiers: chr1:g.25870234C>T (hg19) ; chr1:g.25543743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25543743C>T , CM000663.2:g.25543743C>T	GRCh38
NC_000001.10:g.25870234C>T , CM000663.1:g.25870234C>T	GRCh37
NC_000001.9:g.25742821C>T	NCBI36
NG_008932.1:g.5159C>T , LRG_276:g.5159C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374338.5:c.45C>T MANE Select	ENSP00000363458.4:p.Pro15=
ENST00000374338.4:c.45C>T	ENSP00000363458.4:p.Pro15=
NM_015627.2:c.45C>T , LRG_276t1:c.45C>T	NP_056442.2:p.Pro15=
XM_006710559.2:c.45C>T	XP_006710622.1:p.Pro15=
XM_006710560.2:c.45C>T	XP_006710623.1:p.Pro15=
XM_006710561.2:c.45C>T	XP_006710624.1:p.Pro15=
XM_011541209.1:c.45C>T	XP_011539511.1:p.Pro15=
XM_011541210.1:c.45C>T	XP_011539512.1:p.Pro15=
XM_011541211.1:c.45C>T	XP_011539513.1:p.Pro15=
XM_011541212.1:c.45C>T	XP_011539514.1:p.Pro15=
XR_426598.2:n.164C>T
XR_946602.1:n.164C>T
XR_946603.1:n.164C>T
XM_006710559.4:c.45C>T	XP_006710622.1:p.Pro15=
XM_006710560.4:c.45C>T	XP_006710623.1:p.Pro15=
XM_006710561.4:c.45C>T	XP_006710624.1:p.Pro15=
XM_011541209.3:c.45C>T	XP_011539511.1:p.Pro15=
XM_011541210.3:c.45C>T	XP_011539512.1:p.Pro15=
XM_011541211.3:c.45C>T	XP_011539513.1:p.Pro15=
XM_011541212.3:c.45C>T	XP_011539514.1:p.Pro15=
XM_017000995.2:c.45C>T	XP_016856484.1:p.Pro15=
XR_001737112.2:n.115C>T
XR_001737113.2:n.115C>T
XR_002956258.1:n.115C>T
XR_426598.4:n.115C>T
XR_946602.3:n.115C>T
XR_946603.3:n.115C>T
NM_015627.3:c.45C>T MANE Select	NP_056442.2:p.Pro15=