Canonical Allele Identifier: CA339078769

Gene: LDLRAP1

Linked Data

• MyVariant Identifiers: chr1:g.25883738C>T (hg19) ; chr1:g.25557247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557247C>T , CM000663.2:g.25557247C>T	GRCh38
NC_000001.10:g.25883738C>T , CM000663.1:g.25883738C>T	GRCh37
NC_000001.9:g.25756325C>T	NCBI36
NG_008932.1:g.18663C>T , LRG_276:g.18663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.439C>T MANE Select	ENSP00000363458.4:p.Leu147Phe
ENST00000374338.4:c.439C>T	ENSP00000363458.4:p.Leu147Phe
ENST00000462394.1:n.187C>T
ENST00000488127.1:n.909C>T
NM_015627.2:c.439C>T , LRG_276t1:c.439C>T	NP_056442.2:p.Leu147Phe
XM_006710559.2:c.439C>T	XP_006710622.1:p.Leu147Phe
XM_006710560.2:c.439C>T	XP_006710623.1:p.Leu147Phe
XM_006710561.2:c.439C>T	XP_006710624.1:p.Leu147Phe
XM_011541209.1:c.439C>T	XP_011539511.1:p.Leu147Phe
XM_011541210.1:c.439C>T	XP_011539512.1:p.Leu147Phe
XM_011541211.1:c.439C>T	XP_011539513.1:p.Leu147Phe
XM_011541212.1:c.439C>T	XP_011539514.1:p.Leu147Phe
XR_426598.2:n.558C>T
XR_946602.1:n.558C>T
XR_946603.1:n.558C>T
XM_006710559.4:c.439C>T	XP_006710622.1:p.Leu147Phe
XM_006710560.4:c.439C>T	XP_006710623.1:p.Leu147Phe
XM_006710561.4:c.439C>T	XP_006710624.1:p.Leu147Phe
XM_011541209.3:c.439C>T	XP_011539511.1:p.Leu147Phe
XM_011541210.3:c.439C>T	XP_011539512.1:p.Leu147Phe
XM_011541211.3:c.439C>T	XP_011539513.1:p.Leu147Phe
XM_011541212.3:c.439C>T	XP_011539514.1:p.Leu147Phe
XM_017000994.2:c.358C>T	XP_016856483.1:p.Leu120Phe
XM_017000995.2:c.439C>T	XP_016856484.1:p.Leu147Phe
XM_024446315.1:c.304C>T	XP_024302083.1:p.Leu102Phe
XR_001737112.2:n.509C>T
XR_001737113.2:n.509C>T
XR_002956258.1:n.509C>T
XR_426598.4:n.509C>T
XR_946602.3:n.509C>T
XR_946603.3:n.509C>T
NM_015627.3:c.439C>T MANE Select	NP_056442.2:p.Leu147Phe