Canonical Allele Identifier: CA339078791
Gene: LDLRAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2044225792
gnomAD v3: 1-25557258-G-C
gnomAD v4: 1-25557258-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25557258G>C , CM000663.2:g.25557258G>C GRCh38
NC_000001.10:g.25883749G>C , CM000663.1:g.25883749G>C GRCh37
NC_000001.9:g.25756336G>C NCBI36
NG_008932.1:g.18674G>C , LRG_276:g.18674G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374338.5:c.450G>C MANE Select ENSP00000363458.4:p.Lys150Asn
ENST00000374338.4:c.450G>C ENSP00000363458.4:p.Lys150Asn
ENST00000462394.1:n.198G>C
ENST00000488127.1:n.920G>C
NM_015627.2:c.450G>C , LRG_276t1:c.450G>C NP_056442.2:p.Lys150Asn
XM_006710559.2:c.450G>C XP_006710622.1:p.Lys150Asn
XM_006710560.2:c.450G>C XP_006710623.1:p.Lys150Asn
XM_006710561.2:c.450G>C XP_006710624.1:p.Lys150Asn
XM_011541209.1:c.450G>C XP_011539511.1:p.Lys150Asn
XM_011541210.1:c.450G>C XP_011539512.1:p.Lys150Asn
XM_011541211.1:c.450G>C XP_011539513.1:p.Lys150Asn
XM_011541212.1:c.450G>C XP_011539514.1:p.Lys150Asn
XR_426598.2:n.569G>C
XR_946602.1:n.569G>C
XR_946603.1:n.569G>C
XM_006710559.4:c.450G>C XP_006710622.1:p.Lys150Asn
XM_006710560.4:c.450G>C XP_006710623.1:p.Lys150Asn
XM_006710561.4:c.450G>C XP_006710624.1:p.Lys150Asn
XM_011541209.3:c.450G>C XP_011539511.1:p.Lys150Asn
XM_011541210.3:c.450G>C XP_011539512.1:p.Lys150Asn
XM_011541211.3:c.450G>C XP_011539513.1:p.Lys150Asn
XM_011541212.3:c.450G>C XP_011539514.1:p.Lys150Asn
XM_017000994.2:c.369G>C XP_016856483.1:p.Lys123Asn
XM_017000995.2:c.450G>C XP_016856484.1:p.Lys150Asn
XM_024446315.1:c.315G>C XP_024302083.1:p.Lys105Asn
XR_001737112.2:n.520G>C
XR_001737113.2:n.520G>C
XR_002956258.1:n.520G>C
XR_426598.4:n.520G>C
XR_946602.3:n.520G>C
XR_946603.3:n.520G>C
NM_015627.3:c.450G>C MANE Select NP_056442.2:p.Lys150Asn