Canonical Allele Identifier: CA882718873
Gene: PPP1R13L HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.45379704T>G
GRCh37 chr19:g.45882962T>G
gnomAD v3:
19:45379704 T / G
gnomAD v4:
chr19-45379704-T-G
Joint Max Group AF 0.00000799 (AFR)
Genomes Max Group AF 0.00000802 (AFR)
dbSNP:
6966
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45379704T>G , CM000681.2:g.45379704T>G GRCh38
NC_000019.9:g.45882962T>G , CM000681.1:g.45882962T>G GRCh37
NC_000019.8:g.50574802T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360957.10:c.*486A>C MANE Select ENSP00000354218.4:n.*486A>C
ENST00000360957.9:c.*486A>C ENSP00000354218.4:n.*486A>C
ENST00000418234.6:c.*486A>C ENSP00000403902.1:n.*486A>C
ENST00000587270.5:n.2446A>C
ENST00000589371.1:c.289A>C ENSP00000466555.1:n.289A>C
ENST00000591986.1:c.582A>C
ENST00000612351.1:c.*486A>C ENSP00000478646.1:n.*486A>C
NM_001142502.1:c.*486A>C NP_001135974.1:n.*486A>C
NM_006663.3:c.*486A>C NP_006654.2:n.*486A>C
XM_017026177.1:c.*486A>C XP_016881666.1:n.*486A>C
XM_017026178.1:c.*486A>C XP_016881667.1:n.*486A>C
NM_006663.4:c.*486A>C MANE Select NP_006654.2:n.*486A>C
NM_001142502.2:c.*486A>C NP_001135974.1:n.*486A>C
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