Canonical Allele Identifier: CA339076612

Gene: LDLRAP1

Linked Data

• gnomAD v4: 1-25543745-G-T
• MyVariant Identifiers: chr1:g.25870236G>T (hg19) ; chr1:g.25543745G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25543745G>T , CM000663.2:g.25543745G>T	GRCh38
NC_000001.10:g.25870236G>T , CM000663.1:g.25870236G>T	GRCh37
NC_000001.9:g.25742823G>T	NCBI36
NG_008932.1:g.5161G>T , LRG_276:g.5161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.47G>T MANE Select	ENSP00000363458.4:p.Ser16Ile
ENST00000374338.4:c.47G>T	ENSP00000363458.4:p.Ser16Ile
NM_015627.2:c.47G>T , LRG_276t1:c.47G>T	NP_056442.2:p.Ser16Ile
XM_006710559.2:c.47G>T	XP_006710622.1:p.Ser16Ile
XM_006710560.2:c.47G>T	XP_006710623.1:p.Ser16Ile
XM_006710561.2:c.47G>T	XP_006710624.1:p.Ser16Ile
XM_011541209.1:c.47G>T	XP_011539511.1:p.Ser16Ile
XM_011541210.1:c.47G>T	XP_011539512.1:p.Ser16Ile
XM_011541211.1:c.47G>T	XP_011539513.1:p.Ser16Ile
XM_011541212.1:c.47G>T	XP_011539514.1:p.Ser16Ile
XR_426598.2:n.166G>T
XR_946602.1:n.166G>T
XR_946603.1:n.166G>T
XM_006710559.4:c.47G>T	XP_006710622.1:p.Ser16Ile
XM_006710560.4:c.47G>T	XP_006710623.1:p.Ser16Ile
XM_006710561.4:c.47G>T	XP_006710624.1:p.Ser16Ile
XM_011541209.3:c.47G>T	XP_011539511.1:p.Ser16Ile
XM_011541210.3:c.47G>T	XP_011539512.1:p.Ser16Ile
XM_011541211.3:c.47G>T	XP_011539513.1:p.Ser16Ile
XM_011541212.3:c.47G>T	XP_011539514.1:p.Ser16Ile
XM_017000995.2:c.47G>T	XP_016856484.1:p.Ser16Ile
XR_001737112.2:n.117G>T
XR_001737113.2:n.117G>T
XR_002956258.1:n.117G>T
XR_426598.4:n.117G>T
XR_946602.3:n.117G>T
XR_946603.3:n.117G>T
NM_015627.3:c.47G>T MANE Select	NP_056442.2:p.Ser16Ile