Canonical Allele Identifier: CA339078597

Gene: LDLRAP1

Linked Data

• MyVariant Identifiers: chr1:g.25883663G>C (hg19) ; chr1:g.25557172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557172G>C , CM000663.2:g.25557172G>C	GRCh38
NC_000001.10:g.25883663G>C , CM000663.1:g.25883663G>C	GRCh37
NC_000001.9:g.25756250G>C	NCBI36
NG_008932.1:g.18588G>C , LRG_276:g.18588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.364G>C MANE Select	ENSP00000363458.4:p.Asp122His
ENST00000374338.4:c.364G>C	ENSP00000363458.4:p.Asp122His
ENST00000462394.1:n.112G>C
ENST00000488127.1:n.834G>C
NM_015627.2:c.364G>C , LRG_276t1:c.364G>C	NP_056442.2:p.Asp122His
XM_006710559.2:c.364G>C	XP_006710622.1:p.Asp122His
XM_006710560.2:c.364G>C	XP_006710623.1:p.Asp122His
XM_006710561.2:c.364G>C	XP_006710624.1:p.Asp122His
XM_011541209.1:c.364G>C	XP_011539511.1:p.Asp122His
XM_011541210.1:c.364G>C	XP_011539512.1:p.Asp122His
XM_011541211.1:c.364G>C	XP_011539513.1:p.Asp122His
XM_011541212.1:c.364G>C	XP_011539514.1:p.Asp122His
XR_426598.2:n.483G>C
XR_946602.1:n.483G>C
XR_946603.1:n.483G>C
XM_006710559.4:c.364G>C	XP_006710622.1:p.Asp122His
XM_006710560.4:c.364G>C	XP_006710623.1:p.Asp122His
XM_006710561.4:c.364G>C	XP_006710624.1:p.Asp122His
XM_011541209.3:c.364G>C	XP_011539511.1:p.Asp122His
XM_011541210.3:c.364G>C	XP_011539512.1:p.Asp122His
XM_011541211.3:c.364G>C	XP_011539513.1:p.Asp122His
XM_011541212.3:c.364G>C	XP_011539514.1:p.Asp122His
XM_017000994.2:c.283G>C	XP_016856483.1:p.Asp95His
XM_017000995.2:c.364G>C	XP_016856484.1:p.Asp122His
XM_024446315.1:c.229G>C	XP_024302083.1:p.Asp77His
XR_001737112.2:n.434G>C
XR_001737113.2:n.434G>C
XR_002956258.1:n.434G>C
XR_426598.4:n.434G>C
XR_946602.3:n.434G>C
XR_946603.3:n.434G>C
NM_015627.3:c.364G>C MANE Select	NP_056442.2:p.Asp122His