Canonical Allele Identifier: CA339078642
Gene: LDLRAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25557193T>A , CM000663.2:g.25557193T>A GRCh38
NC_000001.10:g.25883684T>A , CM000663.1:g.25883684T>A GRCh37
NC_000001.9:g.25756271T>A NCBI36
NG_008932.1:g.18609T>A , LRG_276:g.18609T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374338.5:c.385T>A MANE Select ENSP00000363458.4:p.Phe129Ile
ENST00000374338.4:c.385T>A ENSP00000363458.4:p.Phe129Ile
ENST00000462394.1:n.133T>A
ENST00000488127.1:n.855T>A
NM_015627.2:c.385T>A , LRG_276t1:c.385T>A NP_056442.2:p.Phe129Ile
XM_006710559.2:c.385T>A XP_006710622.1:p.Phe129Ile
XM_006710560.2:c.385T>A XP_006710623.1:p.Phe129Ile
XM_006710561.2:c.385T>A XP_006710624.1:p.Phe129Ile
XM_011541209.1:c.385T>A XP_011539511.1:p.Phe129Ile
XM_011541210.1:c.385T>A XP_011539512.1:p.Phe129Ile
XM_011541211.1:c.385T>A XP_011539513.1:p.Phe129Ile
XM_011541212.1:c.385T>A XP_011539514.1:p.Phe129Ile
XR_426598.2:n.504T>A
XR_946602.1:n.504T>A
XR_946603.1:n.504T>A
XM_006710559.4:c.385T>A XP_006710622.1:p.Phe129Ile
XM_006710560.4:c.385T>A XP_006710623.1:p.Phe129Ile
XM_006710561.4:c.385T>A XP_006710624.1:p.Phe129Ile
XM_011541209.3:c.385T>A XP_011539511.1:p.Phe129Ile
XM_011541210.3:c.385T>A XP_011539512.1:p.Phe129Ile
XM_011541211.3:c.385T>A XP_011539513.1:p.Phe129Ile
XM_011541212.3:c.385T>A XP_011539514.1:p.Phe129Ile
XM_017000994.2:c.304T>A XP_016856483.1:p.Phe102Ile
XM_017000995.2:c.385T>A XP_016856484.1:p.Phe129Ile
XM_024446315.1:c.250T>A XP_024302083.1:p.Phe84Ile
XR_001737112.2:n.455T>A
XR_001737113.2:n.455T>A
XR_002956258.1:n.455T>A
XR_426598.4:n.455T>A
XR_946602.3:n.455T>A
XR_946603.3:n.455T>A
NM_015627.3:c.385T>A MANE Select NP_056442.2:p.Phe129Ile