Canonical Allele Identifier: CA84746688
Gene: PLS1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.142712158G>C
GRCh37 chr3:g.142431000G>C
gnomAD v2:
3:142431000 G / C
gnomAD v3:
3:142712158 G / C
gnomAD v4:
chr3-142712158-G-C
Joint Max Group AF 0.15852913 (AFR)
Genomes Max Group AF 0.15644554 (AFR)
Exomes Max Group AF 0.16078441 (AFR)
ClinVar RCV:
RCV001650103
ClinVar Variation:
1249967
dbSNP:
3773506
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142712158G>C , CM000665.2:g.142712158G>C GRCh38
NC_000003.11:g.142431000G>C , CM000665.1:g.142431000G>C GRCh37
NC_000003.10:g.143913690G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000457734.7:c.*151G>C MANE Select ENSP00000387890.2:n.*151G>C
ENST00000337777.7:c.*151G>C ENSP00000336831.3:n.*151G>C
ENST00000457734.6:c.*151G>C ENSP00000387890.2:n.*151G>C
NM_001145319.1:c.*151G>C NP_001138791.1:n.*151G>C
NM_001172312.1:c.*151G>C NP_001165783.1:n.*151G>C
NM_002670.2:c.*151G>C NP_002661.2:n.*151G>C
XM_006713660.2:c.*151G>C XP_006713723.1:n.*151G>C
XM_011512900.1:c.*151G>C XP_011511202.1:n.*151G>C
XM_011512901.1:c.*151G>C XP_011511203.1:n.*151G>C
XM_011512902.1:c.*151G>C XP_011511204.1:n.*151G>C
XM_011512903.1:c.*151G>C XP_011511205.1:n.*151G>C
XM_006713660.3:c.*151G>C XP_006713723.1:n.*151G>C
XM_011512900.2:c.*151G>C XP_011511202.1:n.*151G>C
XM_011512903.2:c.*151G>C XP_011511205.1:n.*151G>C
XM_017006626.1:c.*151G>C XP_016862115.1:n.*151G>C
XM_017006627.1:c.*151G>C XP_016862116.1:n.*151G>C
NM_001145319.2:c.*151G>C MANE Select NP_001138791.1:n.*151G>C
NM_002670.3:c.*151G>C NP_002661.2:n.*151G>C
NM_001172312.2:c.*151G>C NP_001165783.1:n.*151G>C
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