Canonical Allele Identifier: CA14736137
Gene: PPP1R13L HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45404702A>G , CM000681.2:g.45404702A>G GRCh38
NC_000019.9:g.45907960A>G , CM000681.1:g.45907960A>G GRCh37
NC_000019.8:g.50599800A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360957.10:c.-22+297T>C MANE Select ENSP00000354218.4:n.-22+297T>C
ENST00000360957.9:c.-22+297T>C ENSP00000354218.4:n.-22+297T>C
ENST00000418234.6:c.-22+1590T>C ENSP00000403902.1:n.-22+1590T>C
ENST00000585905.1:n.18+1590T>C
ENST00000592134.1:c.-148+297T>C ENSP00000467471.1:n.-148+297T>C
ENST00000593226.5:c.-22+297T>C ENSP00000466730.1:n.-22+297T>C
NM_001142502.1:c.-22+1590T>C NP_001135974.1:n.-22+1590T>C
NM_006663.3:c.-22+297T>C NP_006654.2:n.-22+297T>C
XM_017026177.1:c.-22+297T>C XP_016881666.1:n.-22+297T>C
XM_017026178.1:c.-148+1590T>C XP_016881667.1:n.-148+1590T>C
XM_017026179.1:c.-22+1590T>C XP_016881668.1:n.-22+1590T>C
NM_006663.4:c.-22+297T>C MANE Select NP_006654.2:n.-22+297T>C
NM_001142502.2:c.-22+1590T>C NP_001135974.1:n.-22+1590T>C
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