Canonical Allele Identifier: CA339076411
Gene: LDLRAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1446604535
gnomAD v3: 1-25543701-G-A
gnomAD v4: 1-25543701-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25543701G>A , CM000663.2:g.25543701G>A GRCh38
NC_000001.10:g.25870192G>A , CM000663.1:g.25870192G>A GRCh37
NC_000001.9:g.25742779G>A NCBI36
NG_008932.1:g.5117G>A , LRG_276:g.5117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374338.5:c.3G>A MANE Select ENSP00000363458.4:p.Met1Ile
ENST00000374338.4:c.3G>A ENSP00000363458.4:p.Met1Ile
NM_015627.2:c.3G>A , LRG_276t1:c.3G>A NP_056442.2:p.Met1Ile
XM_006710559.2:c.3G>A XP_006710622.1:p.Met1Ile
XM_006710560.2:c.3G>A XP_006710623.1:p.Met1Ile
XM_006710561.2:c.3G>A XP_006710624.1:p.Met1Ile
XM_011541209.1:c.3G>A XP_011539511.1:p.Met1Ile
XM_011541210.1:c.3G>A XP_011539512.1:p.Met1Ile
XM_011541211.1:c.3G>A XP_011539513.1:p.Met1Ile
XM_011541212.1:c.3G>A XP_011539514.1:p.Met1Ile
XR_426598.2:n.122G>A
XR_946602.1:n.122G>A
XR_946603.1:n.122G>A
XM_006710559.4:c.3G>A XP_006710622.1:p.Met1Ile
XM_006710560.4:c.3G>A XP_006710623.1:p.Met1Ile
XM_006710561.4:c.3G>A XP_006710624.1:p.Met1Ile
XM_011541209.3:c.3G>A XP_011539511.1:p.Met1Ile
XM_011541210.3:c.3G>A XP_011539512.1:p.Met1Ile
XM_011541211.3:c.3G>A XP_011539513.1:p.Met1Ile
XM_011541212.3:c.3G>A XP_011539514.1:p.Met1Ile
XM_017000995.2:c.3G>A XP_016856484.1:p.Met1Ile
XR_001737112.2:n.73G>A
XR_001737113.2:n.73G>A
XR_002956258.1:n.73G>A
XR_426598.4:n.73G>A
XR_946602.3:n.73G>A
XR_946603.3:n.73G>A
NM_015627.3:c.3G>A MANE Select NP_056442.2:p.Met1Ile