Canonical Allele Identifier: CA9514016
Gene: PPP1R13L HGNC NCBI
COSMIC:
COSN25090308 (not active)
MyVariant.info:
GRCh38 chr19:g.45379704T>A
GRCh37 chr19:g.45882962T>A
gnomAD v2:
19:45882962 T / A
gnomAD v3:
19:45379704 T / A
gnomAD v4:
chr19-45379704-T-A
Joint Max Group AF 0.60184774 (AFR)
Genomes Max Group AF 0.60189605 (AFR)
Exomes Max Group AF 0.48013995 (AFR)
dbSNP:
6966
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000360957.10:c.*486A>T MANE Select ENSP00000354218.4:n.*486A>T
ENST00000360957.9:c.*486A>T ENSP00000354218.4:n.*486A>T
ENST00000418234.6:c.*486A>T ENSP00000403902.1:n.*486A>T
ENST00000587270.5:n.2446A>T
ENST00000589371.1:c.289A>T ENSP00000466555.1:n.289A>T
ENST00000591986.1:c.582A>T
ENST00000612351.1:c.*486A>T ENSP00000478646.1:n.*486A>T
NM_001142502.1:c.*486A>T NP_001135974.1:n.*486A>T
NM_006663.3:c.*486A>T NP_006654.2:n.*486A>T
XM_017026177.1:c.*486A>T XP_016881666.1:n.*486A>T
XM_017026178.1:c.*486A>T XP_016881667.1:n.*486A>T
NM_006663.4:c.*486A>T MANE Select NP_006654.2:n.*486A>T
NM_001142502.2:c.*486A>T NP_001135974.1:n.*486A>T
Search 100 bp 5'
Search 100 bp 3'